CYP21A2 ELISA Kit for Human(Homo sapiens) | EIAab.comCYP21A2 ELISA Kit for Human(Homo sapiens)

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CYP21A2 (Gene name),

Steroid 21-hydroxylase (Protein name ), CP21A_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

CYP21A2(CYP21;CYP21B);

Protein name:

Steroid 21-hydroxylase;

Alternative:

Cytochrome P-450c21;21-OHase;Cytochrome P450 XXI;Cytochrome P450 21;Cytochrome P450-C21B;Cytochrome P450-C21;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Function:

Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids.

Subcellular Location:

Endoplasmic reticulum membrane Peripheral membrane protein Microsome membrane Peripheral membrane protein

Protein Attributes:

Sequence length:

494

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

494:

LLPSGDALPS | LQPLPHCSVI | LKMQPFQVRL | QPRGMGAHSP | GQNQ

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

SMR:

P08686

STRING:

9606.ENSP00000403721

MIM:

201910

Pfam:

PF00067

UniGene:

Hs.654479

String:

P08686

KEGG:

hsa:1589

Uniprot:

P08686

FOR

ELISA Kit for Human Steroid 21-hydroxylase

Cat.:

E1557h

Price:

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Manual:

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MSDS:

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Packing:

96T

Range:

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CLIA Kit for Human Steroid 21-hydroxylase

Cat.:

U1557h

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Packing:

96T

Polyclonal Antibody for Human Steroid 21-hydroxylase

Cat.:

P1557Rb-h

Price:

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Packing:

40ug/0.2ml

Monoclonal Antibody for Human Steroid 21-hydroxylase

Protein for Human Steroid 21-hydroxylase

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

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Linearity

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References

1.

"Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene."
Higashi Y. , Yoshioka H. , Yamane M. , Gotoh O. , Fujii-Kuriyama Y.
Proc. Natl. Acad. Sci. U.S.A.83:2841-2845(1986) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE CYP21A2*1A)
2.

"Structure of human steroid 21-hydroxylase genes."
White P.C. , New M.I. , Dupont B.
Proc. Natl. Acad. Sci. U.S.A.83:5111-5115(1986) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ALLELE CYP21A2*1B) (ISOFORM 1)
3.

"Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia."
Rodrigues N.R. , Dunham I. , Yu C.Y. , Carroll M.C. , Porter R.R. , Campbell R.D.
EMBO J.6:1653-1661(1987) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT AH3 THR-268;VARIANTS LEU-9 INS; ARG-102 AND SER-493
4.

"Nonsense mutation causing steroid 21-hydroxylase deficiency."
Globerman H. , Amor M. , Parker K.L. , New M.I. , White P.C.
J. Clin. Invest.82:139-144(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT AH3 LEU-281;VARIANT LEU-9 INS
5.

"R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions."
Helmberg A. , Tusie-Luna M.-T. , Tabarelli M. , Kofler R. , White P.C.
Mol. Endocrinol.6:1318-1322(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS LEU-9 INS; ARG-102 AND SER-493;VARIANTS AH3 HIS-339 AND SER-453
tissue: Peripheral blood.
6.

"Linkage analysis of the C4A/C4B copy number variation and polymorphisms of the adjacent steroid 21-hydroxylase gene in a healthy population."
Blasko B. , Banlaki Z. , Gyapay G. , Pozsonyi E. , Sasvari-Szekely M. , Rajczy K. , Fust G. , Szilagyi A.
Mol. Immunol.46:2623-2629(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
7.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ALLELE CYP21A2*6) (ISOFORM 2)
tissue: Adrenal gland.
8.

"The DNA sequence and analysis of human chromosome 6."
Mungall A.J. , Palmer S.A. , Sims S.K. , Edwards C.A. , Ashurst J.L. , Wilming L. , Jones M.C. , Horton R. , Hunt S.E. , Scott C.E. , Gilbert J.G.R. , Clamp M.E. , Bethel G. , Milne S. , Ainscough R. , Almeida J.P. , Ambrose K.D. , Andrews T.D. , more...
Nature425:805-811(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
9.

Mural R.J. , Istrail S. , Sutton G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
10.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1);VARIANT SER-493
11.

"A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome."
Collier S. , Tassabehji M. , Sinnott P. , Strachan T.
Nat. Genet.3:260-265(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 109-185;VARIANT ASN-172
12.

"Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man."
Carroll M.C. , Campbell R.D. , Porter R.R.
Proc. Natl. Acad. Sci. U.S.A.82:521-525(1985) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 149-182;VARIANT AH3 ASN-172
13.

"Mutation in the CYP21B gene (Ile-172-->Asn) causes steroid 21-hydroxylase deficiency."
Amor M. , Parker K.L. , Globerman H. , New M.I. , White P.C.
Proc. Natl. Acad. Sci. U.S.A.85:1600-1604(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 149-182;VARIANT AH3 ASN-172
14.

"P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia."
Matteson K.J. , Phillips J.A. III , Miller W.L. , Chung B.C. , Orlando P.J. , Frisch H. , Ferrandez A. , Burr I.M.
Proc. Natl. Acad. Sci. U.S.A.84:5858-5862(1987) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 265-494 (ISOFORM 1);VARIANT AH3 LEU-281
15.

"Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively."
Wu D.-A. , Chung B.-C.
J. Clin. Invest.88:519-523(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANT AH3 LEU-281;MUTAGENESIS OF SER-268 AND CYS-428
16.

"Molecular genetics of 21-hydroxylase deficient late-onset adrenal hyperplasia."
Gunn S.K. , Sherman L.D. , Therrell B.L. , Owerbach D.I.
Semin. Reprod. Endocrinol.11:347-352(1993)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON AH3 VARIANTS
17.

"Mutations in steroid 21-hydroxylase (CYP21)."
White P.C. , Tusie-Luna M.-T. , New M.I. , Speiser P.W.
Hum. Mutat.3:373-378(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON AH3 VARIANTS;GENE CONVERSION
18.

"Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1."
Speiser P.W. , New M.I. , White P.C.
N. Engl. J. Med.319:19-23(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-211 AND LEU-281
19.

"A missense mutation at Ile172-->Asn or Arg356-->Trp causes steroid 21-hydroxylase deficiency."
Chiou S.-H. , Hu M.-C. , Chung B.-C.
J. Biol. Chem.265:3549-3552(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 ASN-172 AND TRP-356;VARIANT LEU-9 INS
20.

"Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B) gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia."
Partanen J. , Campbell R.D.
Hum. Genet.87:716-720(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AH3 ASN-172
21.

"A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele."
Tusie-Luna M.T. , Speiser P.W. , Dumic M. , New M.I. , White P.C.
Mol. Endocrinol.5:685-692(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AH3 LEU-30;VARIANT THR-268
22.

"Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency."
Speiser P.W. , Dupont J. , Zhu D. , Serrat J. , Buegeleisen M. , Tusie-Luna M.-T. , Lesser M. , New M.I. , White P.C.
J. Clin. Invest.90:584-595(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-30; ASN-172; ASN-236; GLU-237; LYS-239; LEU-281 AND TRP-356
23.

"Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency."
Owerbach D. , Sherman L. , Ballard A.L. , Azziz R.
Mol. Endocrinol.6:1211-1215(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AH3 SER-453
24.

"Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations."
Wedell A. , Ritzen E.M. , Haglund-Stengler B. , Luthman H.
Proc. Natl. Acad. Sci. U.S.A.89:7232-7236(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-105; SER-291 AND SER-453
25.

"Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene."
Wedell A. , Luthman H.
Hum. Genet.91:236-240(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AH3 PRO-483
26.

"Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency."
Barbat B. , Bogyo A. , Raux-Demay M.-C. , Kuttenn F. , Boue J. , Simon-Bouy B. , Serre J.-L. , Boue A. , Mornet E.
Hum. Mutat.5:126-130(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 ASN-172; ASN-236; LEU-281 AND PRO-483;VARIANT SER-493
27.

"E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency."
Kirby-Keyser L. , Porter C.C. , Donohoue P.A.
Hum. Mutat.9:181-182(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AH3 ASP-380
28.

"A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction."
Lajic S. , Levo A. , Nikoshkov A. , Lundberg Y. , Partanen J. , Wedell A.
Hum. Genet.99:704-709(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 PRO-356 AND GLN-356
29.

"Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency."
Nikoshkov A. , Lajic S. , Holst M. , Wedell A. , Luthman H.
J. Clin. Endocrinol. Metab.82:194-199(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-105 AND SER-453
30.

"Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutations."
Ordonez-Sanchez M.L. , Ramirez-Jimenez S. , Lopez-Gutierrez A.U. , Riba L. , Gamboa-Cardiel S. , Cerrillo-Hinojosa M. , Altamirano-Bustamante N. , Calzada-Leon R. , Robles-Valdes C. , Mendoza-Morfin F. , Tusie-Luna M.T.
Hum. Genet.102:170-177(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3;VARIANTS
31.

"Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability."
Nikoshkov A. , Lajic S. , Vlamis-Gardikas A. , Tranebjaerg L. , Holst M. , Wedell A. , Luthman H.
J. Biol. Chem.273:6163-6165(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 GLU-196 DEL; SER-291 AND PRO-483
32.

"Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21)."
Lajic S. , Nikoshkov A. , Holst M. , Wedell A.
Biochem. Biophys. Res. Commun.257:384-390(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AH3 GLN-30;CHARACTERIZATION OF VARIANT AH3 GLN-30
33.

"Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease."
Lobato M.N. , Ordonez-Sanchez M.L. , Tusie-Luna M.T. , Meseguer A.
Hum. Hered.49:169-175(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-30; VAL-90; ASN-172; ALA-178; LEU-281; CYS-291; HIS-354; TRP-356 AND SER-453
34.

"Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis."
Witchel S.F. , Smith R. , Suda-Hartman M.
Hum. Mutat.13:172-172(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 TYR-169; LEU-281 AND GLN-356
35.

"Steroid 21-hydroxylase deficiency: mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis."
Ohlsson G. , Mueller J. , Skakkebaek N.E. , Schwartz M.
Hum. Mutat.13:482-486(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-30; GLU-64; ASN-172; ASN-236; LEU-281; SER-291; TRP-356 AND VAL-362
36.

"A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia."
Kapelari K. , Ghanaati Z. , Wollmann H. , Ventz M. , Ranke M.B. , Kofler R. , Peters H.
Hum. Mutat.13:505-505(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-30; ASN-172; ASN-236; GLU-237; LYS-239; LEU-281 AND TRP-356
37.

"A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency."
Billerbeck A.E.C. , Bachega T.A.S.S. , Frazatto E.T. , Nishi M.Y. , Goldberg A.C. , Marin M.L.C. , Madureira G. , Monte O. , Arnhold I.J.P. , Mendonca B.B.
J. Clin. Endocrinol. Metab.84:2870-2872(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-281; TRP-356 AND SER-424
38.

"Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency."
Asanuma A. , Ohura T. , Ogawa E. , Sato S. , Igarashi Y. , Matsubara Y. , Iinuma K.
J. Hum. Genet.44:312-317(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-30; ASN-172; LEU-281; TRP-356 AND SER-493;VARIANT THR-268
39.

"Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis."
Lako M. , Ramsden S. , Campbell R.D. , Strachan T.
J. Med. Genet.36:119-124(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 ASN-172 AND TRP-356
40.

"Characterization of single-nucleotide polymorphisms in coding regions of human genes."
Cargill M. , Altshuler D. , Ireland J. , Sklar P. , Ardlie K. , Patil N. , Shaw N. , Lane C.R. , Lim E.P. , Kalyanaraman N. , Nemesh J. , Ziaugra L. , Friedland L. , Rolfe A. , Warrington J. , Lipshutz R. , Daley G.Q. , Lander E.S.
Nat. Genet.22:231-238(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-281 AND SER-453;VARIANTS THR-268 AND SER-493
41.

Cargill M. , Altshuler D. , Ireland J. , Sklar P. , Ardlie K. , Patil N. , Shaw N. , Lane C.R. , Lim E.P. , Kalyanaraman N. , Nemesh J. , Ziaugra L. , Friedland L. , Rolfe A. , Warrington J. , Lipshutz R. , Daley G.Q. , Lander E.S.
Nat. Genet.23:373-373(1999)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
42.

"Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany."
Krone N. , Braun A. , Roscher A.A. , Knorr D. , Schwarz H.P.
J. Clin. Endocrinol. Metab.85:1059-1065(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-30; ASN-172; LEU-281; GLY-281; PHE-300; CYS-354; TRP-356 AND SER-453
43.

"Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore."
Loke K.Y. , Lee Y.S. , Lee W.W.R. , Poh L.K.S.
Horm. Res.55:179-184(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-30; ASN-172; PRO-261; TRP-356 AND PRO-483
44.

"Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency."
Deneux C. , Tardy V. , Dib A. , Mornet E. , Billaud L. , Charron D. , Morel Y. , Kuttenn F.
J. Clin. Endocrinol. Metab.86:207-213(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-30; ASN-172; LEU-281; MET-317; TRP-356; CYS-435 AND SER-453
45.

"Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation."
Baumgartner-Parzer S.M. , Schulze E. , Waldhaeusl W. , Pauschenwein S. , Rondot S. , Nowotny P. , Meyer K. , Frisch H. , Waldhauser F. , Vierhapper H.
J. Clin. Endocrinol. Metab.86:4771-4775(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-30; ASN-172; LEU-281; SER-291; TRP-356; SER-424; HIS-426; SER-453 AND PRO-483;CHARACTERIZATION OF VARIANT AH3 HIS-426
46.

"Novel mutations in the human CYP21 gene."
Levo A. , Partanen J.
Prenat. Diagn.21:885-889(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AH3 TRP-363
47.

"Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations."
Ezquieta B. , Cueva E. , Varela J. , Oliver A. , Fernandez J. , Jariego C.
Acta Paediatr.91:892-898(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-30; ASN-172; LEU-281; LEU-283; TRP-356 AND SER-453
48.

"Novel mutations in CYP21 detected in individuals with hyperandrogenism."
Lajic S. , Clauin S. , Robins T. , Vexiau P. , Blanche H. , Bellanne-Chantelot C. , Wedell A.
J. Clin. Endocrinol. Metab.87:2824-2829(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HYPERANDROGENISM MET-304; SER-375 AND SER-453;CHARACTERIZATION OF VARIANTS HYPERANDROGENISM MET-304; SER-375 AND SER-453
49.

"Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect."
Billerbeck A.E.C. , Mendonca B.B. , Pinto E.M. , Madureira G. , Arnhold I.J.P. , Bachega T.A.S.S.
J. Clin. Endocrinol. Metab.87:4314-4317(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 CYS-408 AND SER-424
50.

"Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease."
Dolzan V. , Stopar-Obreza M. , Zerjav-Tansek M. , Breskvar K. , Krzisnik C. , Battelino T.
Eur. J. Endocrinol.149:137-144(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 THR-15; LEU-30; ASN-172; LEU-281 AND SER-453
51.

"Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management."
Pinto G. , Tardy V. , Trivin C. , Thalassinos C. , Lortat-Jacob S. , Nihoul-Fekete C. , Morel Y. , Brauner R.
J. Clin. Endocrinol. Metab.88:2624-2633(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-30; LEU-62; ASN-172; LEU-281; PRO-341; TRP-356; SER-453 AND PRO-483
52.

"CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations."
Stikkelbroeck N.M. , Hoefsloot L.H. , de Wijs I.J. , Otten B.J. , Hermus A.R. , Sistermans E.A.
J. Clin. Endocrinol. Metab.88:3852-3859(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 ASN-172; LEU-281; ARG-291; TYR-301; PRO-341; TRP-356 AND GLN-483
53.

"Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation."
Kharrat M. , Tardy V. , M'Rad R. , Maazoul F. , Jemaa L.B. , Refai M. , Morel Y. , Chaabouni H.
J. Clin. Endocrinol. Metab.89:368-374(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 ASN-172; TRP-356 AND TRP-483
54.

"Three novel mutations in Japanese patients with 21-hydroxylase deficiency."
Usui T. , Nishisho K. , Kaji M. , Ikuno N. , Yorifuji T. , Yasuda T. , Kuzuya H. , Shimatsu A.
Horm. Res.61:126-132(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AH3 HIS-124
55.

"Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia."
Barbaro M. , Lajic S. , Baldazzi L. , Balsamo A. , Pirazzoli P. , Cicognani A. , Wedell A. , Cacciari E.
J. Clin. Endocrinol. Metab.89:2402-2407(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 THR-15; LEU-30; LEU-281 AND SER-482;CHARACTERIZATION OF VARIANTS AH3 THR-15 AND SER-482
56.

"Detection and assignment of CYP21 mutations using peptide mass signature genotyping."
Zeng X. , Witchel S.F. , Dobrowolski S.F. , Moulder P.V. , Jarvik J.W. , Telmer C.A.
Mol. Genet. Metab.82:38-47(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-30; ASN-172; ASN-236; GLU-237; LYS-239; LEU-281; SER-291; GLN-356; TRP-356; TYR-365; SER-453; LEU-479 AND PRO-483;VARIANT ARG-102
57.

"21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia."
Grigorescu Sido A. , Weber M.M. , Grigorescu Sido P. , Clausmeyer S. , Heinrich U. , Schulze E.
J. Clin. Endocrinol. Metab.90:5769-5773(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-30; ASN-172 AND TRP-356
58.

"p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency."
Menassa R. , Tardy V. , Despert F. , Bouvattier-Morel C. , Brossier J.P. , Cartigny M. , Morel Y.
J. Clin. Endocrinol. Metab.93:1901-1908(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 LEU-30; LEU-62; ASN-172; TRP-356 AND SER-453;CHARACTERIZATION OF VARIANTS AH3 LEU-62 AND SER-453
59.

"Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients."
Soardi F.C. , Barbaro M. , Lau I.F. , Lemos-Marini S.H. , Baptista M.T. , Guerra-Junior G. , Wedell A. , Lajic S. , de Mello M.P.
J. Clin. Endocrinol. Metab.93:2416-2420(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 ARG-56; LEU-62; ARG-107; PRO-142; ASN-172; TRP-356; CYS-408 AND SER-453;CHARACTERIZATION OF VARIANTS AH3 ARG-56; LEU-62; ARG-107; PRO-142; CYS-408 AND SER-453
60.

"Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction."
Riepe F.G. , Hiort O. , Grotzinger J. , Sippell W.G. , Krone N. , Holterhus P.M.
J. Clin. Endocrinol. Metab.93:2891-2895(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 GLN-121 AND SER-453;CHARACTERIZATION OF VARIANT AH3 GLN-121
61.

"Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier."
Tardy V. , Menassa R. , Sulmont V. , Lienhardt-Roussie A. , Lecointre C. , Brauner R. , David M. , Morel Y.
J. Clin. Endocrinol. Metab.95:1288-1300(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AH3 THR-77; PRO-167; ASN-172; THR-230; LYS-233; LEU-281; SER-291; ASP-292; LYS-320; PRO-341; HIS-354; TRP-356; TRP-369; CYS-408; SER-424; HIS-426 AND SER-453;CHARACTERIZATION OF VARIANTS AH3 PRO-167; ASN-172; LEU-281; ASP-292; LYS-320; TRP-369 AND SER-424

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