Gene Symbol | SOX9 |
Entrez Gene ID | 6662 |
Full Name | SRY-box 9 |
Synonyms | CMD1,CMPD1,SRA1,SRXX2,SRXY10 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Campomelic dysplasia with autosomal sex reversal, 114290 (3); Acampomelic campomelic dysplasia, 114290 (3); Campomelic dysplasia, 114290 (3) |