ABCD1 ELISA Kit for Human(Homo sapiens) | EIAab.comABCD1 ELISA Kit for Human(Homo sapiens)

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ABCD1 (Gene name),

ATP-binding cassette sub-family D member 1 (Protein name ), ABCD1_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

ABCD1(ALD);

Protein name:

ATP-binding cassette sub-family D member 1;

Alternative:

Adrenoleukodystrophy protein(ALDP);

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Can form homo- and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form an active transporter. Interacts with PEX19.

Function:

Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity.

Subcellular Location:

Peroxisome membrane Multi-pass membrane protein

Protein Attributes:

Sequence length:

745

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

550:

600:

650:

700:

745:

QQLAGIPKMQ | RRLQELCQIL | GEAVAPAHVP | APSPQGPGGL | QGAST

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

SMR:

P33897

UniGene:

Hs.159546

KEGG:

hsa:215

MIM:

300100

Pfam:

PF06472

String:

P33897

STRING:

9606.ENSP00000218104

Uniprot:

P33897

FOR

ELISA Kit for Human ATP-binding cassette sub-family D member 1

CLIA Kit for Human ATP-binding cassette sub-family D member 1

Polyclonal Antibody for Human ATP-binding cassette sub-family D member 1

Monoclonal Antibody for Human ATP-binding cassette sub-family D member 1

Protein for Human ATP-binding cassette sub-family D member 1

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

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

Linearity

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

References

1.

"Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters."
Mosser J. , Douar A.-M. , Sarde C.-O. , Kioschis P. , Feil R. , Moser H. , Poustka A.-M. , Mandel J.-L. , Aubourg P.
Nature361:726-730(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 / MRNA]
2.

"The DNA sequence of the human X chromosome."
Ross M.T. , Grafham D.V. , Coffey A.J. , Scherer S. , McLay K. , Muzny D. , Platzer M. , Howell G.R. , Burrows C. , Bird C.P. , Frankish A. , Lovell F.L. , Howe K.L. , Ashurst J.L. , Fulton R.S. , Sudbrak R. , Wen G. , Jones M.C. , more...
Nature434:325-337(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: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
3.

"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]
tissue: Pancreas.
4.

"Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters."
Liu L.X. , Janvier K. , Berteaux-Lecellier V. , Cartier N. , Benarous R. , Aubourg P.
J. Biol. Chem.274:32738-32743(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: SUBUNIT;CHARACTERIZATION OF VARIANTS ALD HIS-389; GLN-401; ARG-484 AND GLN-591
5.

"Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters."
Roerig P. , Mayerhofer P. , Holzinger A. , Gaertner J.
FEBS Lett.492:66-72(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: FUNCTION;CHARACTERIZATION OF VARIANTS ALD SER-512 AND LEU-606
6.

"Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis."
Aubourg P. , Mosser J. , Douar A.-M. , Sarde C.-O. , Lopez J. , Mandel J.-L.
Biochimie75:293-302(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: REVIEW
7.

"Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p."
Gloeckner C.J. , Mayerhofer P.U. , Landgraf P. , Muntau A.C. , Holzinger A. , Gerber J.-K. , Kammerer S. , Adamski J. , Roscher A.A.
Biochem. Biophys. Res. Commun.271:144-150(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: INTERACTION WITH PEX19
tissue: Brain.
8.

"PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis."
Sacksteder K.A. , Jones J.M. , South S.T. , Li X. , Liu Y. , Gould S.J.
J. Cell Biol.148:931-944(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: INTERACTION WITH PEX19
9.

"Mutations in the adrenoleukodystrophy gene."
Dodd A. , Rowland S.A. , Hawkes S.L.J. , Kennedy M.A. , Love D.R.
Hum. Mutat.9:500-511(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: REVIEW ON VARIANTS
10.

"ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations."
Kemp S. , Pujol A. , Waterham H.R. , van Geel B.M. , Boehm C.D. , Raymond G.V. , Cutting G.R. , Wanders R.J.A. , Moser H.W.
Hum. Mutat.18:499-515(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: REVIEW ON VARIANTS
11.

"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H. , Olsen J.V. , Bairlein M. , Gnad F. , Oppermann F.S. , Korner R. , Greff Z. , Keri G. , Stemmann O. , Mann M.
Mol. Cell31:438-448(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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-733;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
12.

"A quantitative atlas of mitotic phosphorylation."
Dephoure N. , Zhou C. , Villen J. , Beausoleil S.A. , Bakalarski C.E. , Elledge S.J. , Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A.105:10762-10767(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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-733;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
13.

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
14.

"Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy."
Cartier N. , Sarde C.-O. , Douar A.-M. , Mosser J. , Mandel J.-L. , Aubourg P.
Hum. Mol. Genet.2:1949-1951(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 ALD LYS-291
15.

"Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)."
Fuchs S. , Sarde C.-O. , Wedemann H. , Schwinger E. , Mandel J.-L. , Gal A.
Hum. Mol. Genet.3:1903-1905(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: VARIANTS ALD SER-148; ASP-174; ARG-266; GLN-401; TRP-418 AND PHE-515
16.

"Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene."
Fanen P. , Guidoux S. , Sarde C.-O. , Mandel J.-L. , Goossens M. , Aubourg P.
J. Clin. Invest.94:516-520(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: VARIANTS ALD TRP-518; LEU-606; CYS-617 AND HIS-617
17.

"Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein."
Ligtenberg M.J.L. , Kemp S. , Sarde C.-O. , van Geel B.M. , Kleijer W.J. , Barth P.G. , Mandel J.-L. , van Oost B.A. , Bolhuis P.A.
Am. J. Hum. Genet.56:44-50(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 ALD
18.

"Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes."
Braun A. , Ambach H. , Kammerer S. , Rolinski B. , Stoeckler S. , Rabl W. , Gaertner J. , Zierz S. , Roscher A.A.
Am. J. Hum. Genet.56:854-861(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 ALD HIS-104; GLU-178; GLY-528 DEL AND LEU-560
19.

"Mutational analysis of patients with X-linked adrenoleukodystrophy."
Kok F. , Neumann S. , Sarde C.-O. , Zheng S. , Wu K.-H. , Wei H.-M. , Bergin J. , Watkins P.A. , Gould S. , Sack G. , Moser H. , Mandel J.-L. , Smith K.D.
Hum. Mutat.6:104-115(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 ALD
20.

"Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy."
Feigenbaum V. , Lombard-Platet G. , Guidoux S. , Sarde C.-O. , Mandel J.-L. , Aubourg P.
Am. J. Hum. Genet.58:1135-1144(1996) [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 ALD
21.

"Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy."
Krasemann E.W. , Meier V. , Korenke G.C. , Hunneman D.H. , Hanefeld F.
Hum. Genet.97:194-197(1996) [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 ALD PRO-107; ASP-174; MET-254; GLY-389; GLN-401; TRP-418; LYS-609; CYS-617 AND GLY-617
22.

"First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy."
Korenke G.C. , Krasemann E. , Meier V. , Beuche W. , Hunneman D.H. , Hanefeld F.
Hum. Mutat. Suppl.1:S204-S206(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: VARIANT ALD ARG-679
23.

"X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset."
Wichers M. , Kohler W. , Brennemann W. , Boese V. , Sokolowski P. , Bidlingmaier F. , Ludwig M.
Hum. Genet.105:116-119(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 ALD PRO-105; SER-143; SER-148; PRO-190; ASP-298; SER-529 AND TYR-638
24.

"Two novel missense mutations causing adrenoleukodystrophy in Italian patients."
Perusi C. , Gomez-Lira M. , Mottes M. , Pignatti P.F. , Bertini E. , Cappa M. , Vigliani M.C. , Schiffer D. , Rizzuto N. , Salviati A.
Mol. Cell. Probes13:179-182(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 ALD LEU-108 AND SER-143
25.

"Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described."
Lachtermacher M.B. , Seuanez H.N. , Moser A.B. , Moser H.W. , Smith K.D.
Hum. Mutat.15:348-353(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 ALD ARG-103; ARG-116; SER-152; CYS-174; TRP-189; THR-218; PRO-229; ASP-298; GLN-401; TRP-401; TRP-418; LEU-543; HIS-554; VAL-616; ARG-633 AND PRO-646
26.

"Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations."
Lira M.G. , Mottes M. , Pignatti P.F. , Medica I. , Uziel G. , Cappa M. , Bertini E. , Rizzuto N. , Salviati A.
Hum. Mutat.16:271-271(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 ALD GLN-401; TRP-418; LEU-543 AND ARG-556
27.

"Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: the first polymorphism causing an amino acid exchange."
Dvorakova L. , Storkanova G. , Unterrainer G. , Hujova J. , Kmoch S. , Zeman J. , Hrebicek M. , Berger J.
Hum. Mutat.18:52-60(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 ALD LEU-98; ASP-99; GLU-217; GLN-518; ASP-608; ILE-633 AND PRO-660;VARIANT THR-13
28.

"Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP."
Guimaraes C.P. , Lemos M. , Menezes I. , Coelho T. , Sa-Miranda C. , Azevedo J.E.
Hum. Genet.109:616-622(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 ALD VAL-GLY-GLN-300 INS
29.

"Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders."
Corzo D. , Gibson W. , Johnson K. , Mitchell G. , LePage G. , Cox G.F. , Casey R. , Zeiss C. , Tyson H. , Cutting G.R. , Raymond G.V. , Smith K.D. , Watkins P.A. , Moser A.B. , Moser H.W. , Steinberg S.J.
Am. J. Hum. Genet.70:1520-1531(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: INVOLVEMENT IN CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME
30.

"Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy."
Montagna G. , Di Biase A. , Cappa M. , Melone M.A.B. , Piantadosi C. , Colabianchi D. , Patrono C. , Attori L. , Cannelli N. , Cotrufo R. , Salvati S. , Santorelli F.M.
Hum. Mutat.25:222-222(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 ALD TRP-88; CYS-152; CYS-181; SER-343; PRO-503; ARG-514 AND HIS-554
31.

"Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy."
Shukla P. , Gupta N. , Gulati S. , Ghosh M. , Vasisht S. , Sharma R. , Gupta A.K. , Kalra V. , Kabra M.
Clin. Chim. Acta412:2289-2295(2011) [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 ALD GLN-401; PRO-516; LEU-560; PRO-606 AND GLN-660
32.

"X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism."
Wang Y. , Busin R. , Reeves C. , Bezman L. , Raymond G. , Toomer C.J. , Watkins P.A. , Snowden A. , Moser A. , Naidu S. , Bibat G. , Hewson S. , Tam K. , Clarke J.T. , Charnas L. , Stetten G. , Karczeski B. , Cutting G. , more...
Mol. Genet. Metab.104:160-166(2011) [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 ALD LEU-139 DEL; ARG-198; ARG-266; GLU-266; TRP-401; GLN-518; PHE-523; CYS-540; LEU-560; PRO-606; HIS-617; THR-626; PRO-632; ARG-633; LYS-640 AND ASP-677

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