SOX9

GENE INFORMATION

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Gene name

SOX9 (HGNC Symbol)

Synonyms

CMD1, CMPD1, SRA1

Description

SRY (sex determining region Y)-box 9 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]

Chromosome

17

Cytoband

q24.3

Chromosome location (bp)

72121020 - 72126420

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000125398 (version 78.38)

Entrez gene

6662

UniProt

P48436 (UniProt - Evidence at protein level)

neXtProt

NX_P48436

Antibodypedia

SOX9 antibodies
 

PROTEIN VIEW

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SOX9-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SOX9-001 ENSP00000245479
ENST00000245479
P48436
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