SOX9 ELISA Kit for Human(Homo sapiens) | EIAab.comSOX9 ELISA Kit for Human(Homo sapiens)

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Index > Protein center > SOX9(Gene name) > Human

SOX9 (Gene name),

Transcription factor SOX-9 (Protein name ), SOX9_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

SOX9;

Protein name:

Transcription factor SOX-9;

Alternative:

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

N/A

Function:

Plays an important role in the normal skeletal development. May regulate the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genes.

Subcellular Location:

Nucleus

Protein Attributes:

Sequence length:

509

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

509:

PVYTQLTRP

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

Pfam:

PF00505

SMR:

P48436

KEGG:

hsa:6662

UniGene:

Hs.647409

MIM:

114290

String:

P48436

STRING:

9606.ENSP00000245479

Uniprot:

P48436

FOR

ELISA Kit for Human Transcription factor SOX-9

Cat.:

E0496d

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96T

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ELISA Kit for Human Transcription factor SOX-9

Cat.:

E0496h

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96T

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ELISA Kit for Human Transcription factor SOX-9

Cat.:

E0496m

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MSDS:

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Packing:

96T

ELISA Kit for Human Transcription factor SOX-9

Cat.:

E0496p

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MSDS:

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Packing:

96T

ELISA Kit for Human Transcription factor SOX-9

Cat.:

E0496c

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MSDS:

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Packing:

96T

CLIA Kit for Human Transcription factor SOX-9

Cat.:

U0496m

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MSDS:

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Packing:

96T

CLIA Kit for Human Transcription factor SOX-9

Cat.:

U0496d

Price:

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MSDS:

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Packing:

96T

CLIA Kit for Human Transcription factor SOX-9

Cat.:

U0496p

Price:

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MSDS:

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Packing:

96T

CLIA Kit for Human Transcription factor SOX-9

Cat.:

U0496c

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MSDS:

Please sign in first.

Packing:

96T

CLIA Kit for Human Transcription factor SOX-9

Cat.:

U0496h

Price:

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Manual:

Looking for manual.

MSDS:

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Packing:

96T

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Polyclonal Antibody for Human Transcription factor SOX-9

Cat.:

P0496Rb-h

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human Transcription factor SOX-9

Cat.:

P0496Rb-m

Price:

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human Transcription factor SOX-9

Monoclonal Antibody for Human Transcription factor SOX-9

Protein for Human Transcription factor SOX-9

R&D Technical Data

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

12% SDS-PAGE analysis

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

Precision

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Recovery

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Linearity

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References

1.

"Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene."
Foster J.W. , Dominguez-Steglich M.A. , Guioli S. , Kowk G. , Weller P.A. , Stevanovic M. , Weissenbach J. , Mansour S. , Young I.D. , Goodfellow P.N. , Schafer A.J.
Nature372:525-530(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: NUCLEOTIDE SEQUENCE [MRNA]
tissue: Testis.
2.

"Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9."
Wagner T. , Wirth J. , Meyer J. , Zabel B. , Held M. , Zimmer J. , Pasantes J. , Bricarelli F.D. , Keutel J. , Hustert E. , Wolf U. , Tommerup N. , Schempp W. , Scherer G.
Cell79:1111-1120(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
3.

"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N. , Chen X. , Rolfs A. , Halleck A. , Hines L. , Eisenstein S. , Koundinya M. , Raphael J. , Moreira D. , Kelley T. , LaBaer J. , Lin Y. , Phelan M. , Farmer A.
Submitted (2003-05) 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 MRNA]
4.

Mural R.J. , Istrail S. , Sutton G.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]
5.

"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: Eye.
tissue: PNS.
6.

"A SOX9 duplication and familial 46,XX developmental testicular disorder."
Cox J.J. , Willatt L. , Homfray T. , Woods C.G.
N. Engl. J. Med.364:91-93(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: INVOLVEMENT IN SRXX2
7.

"Mutations in SRY and SOX9: testis-determining genes."
Cameron F.J. , Sinclair A.H.
Hum. Mutat.9:388-395(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
8.

"Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal."
Kwok C. , Weller P.A. , Guioli S. , Foster J.W. , Mansour S. , Zuffardi O. , Punnett H.H. , Dominguez-Steglich M.A. , Brook J.D. , Young I.D. , Goodfellow P.N. , Schafer A.J.
Am. J. Hum. Genet.57:1028-1036(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 CMD1 LEU-112 AND VAL-119
9.

"Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations."
Meyer J. , Suedbeck P. , Held M. , Wagner T. , Schmitz M.L. , Bricarelli F.D. , Eggermont E. , Friedrich U. , Haas O.A. , Kobelt A. , Leroy J.G. , van Maldergem L. , Michel E. , Mitulla B. , Pfeiffer R.A. , Schinzel A. , Schmidt H. , Scherer G.
Hum. Mol. Genet.6:91-98(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 CMD1 LEU-108; ARG-143; PRO-152 AND ARG-170
10.

"Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization."
Goji K. , Nishijima E. , Tsugawa C. , Nishio H. , Pokharel R.K. , Matsuo M.
Hum. Mutat. Suppl.1:S114-S116(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 CMD1 SER-112
11.

"Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia."
McDowall S. , Argentaro A. , Ranganathan S. , Weller P. , Mertin S. , Mansour S. , Tolmie J. , Harley V.
J. Biol. Chem.274:24023-24030(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 CMD1 LEU-112; VAL-119; TYR-165 AND ARG-170;3D-STRUCTURE MODELING
12.

"Acampomelic campomelic dysplasia with SOX9 mutation."
Thong M.-K. , Scherer G. , Kozlowski K. , Haan E. , Morris L.
Am. J. Med. Genet.93:421-425(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: VARIANT CMD1 GLU-173
13.

"Acampomelic campomelic syndrome."
Moog U. , Jansen N.J. , Scherer G. , Schrander-Stumpel C.T.
Am. J. Med. Genet.104:239-245(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 CMD1 TYR-165
14.

"Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation."
Preiss S. , Argentaro A. , Clayton A. , John A. , Jans D.A. , Ogata T. , Nagai T. , Barroso I. , Schafer A.J. , Harley V.R.
J. Biol. Chem.276:27864-27872(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 CMD1 LEU-154 AND THR-158;CHARACTERIZATION OF VARIANTS CMD1 LEU-154 AND THR-158
15.

"Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia."
Sock E. , Pagon R.A. , Keymolen K. , Lissens W. , Wegner M. , Scherer G.
Hum. Mol. Genet.12:1439-1447(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: VARIANT CMD1 GLU-76
16.

"Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia."
Wada Y. , Nishimura G. , Nagai T. , Sawai H. , Yoshikata M. , Miyagawa S. , Hanita T. , Sato S. , Hasegawa T. , Ishikawa S. , Ogata T.
Am. J. Med. Genet. A149:2882-2885(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: VARIANTS CMD1 THR-113 AND LEU-170
17.

"Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia."
Staffler A. , Hammel M. , Wahlbuhl M. , Bidlingmaier C. , Flemmer A.W. , Pagel P. , Nicolai T. , Wegner M. , Holzinger A.
Hum. Mutat.31:E1436-E1444(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 CMD1 VAL-113 AND GLN-165;CHARACTERIZATION OF VARIANTS CMD1 VAL-113 AND GLN-165

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