Entrez gene ID | | 6662 |
Official gene symbol | | SOX9 |
Full name | | SRY (sex determining region Y)-box 9 |
Aliases | | ,CMD1,CMPD1,SRA1, |
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] |
Location | | Chromosome: 17 Locus: 17q24.3-q25.1 |
Gene position | | 70117161 - 70122561 Map Viewer |
Gene orientation | | plus |
Gene size | | 5401 bp |
Gene sequence |
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OMIM ID | | 608160 |
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