SOX9( Human )

Entrez Gene 6662 Entrez Gene 6662
SRY-box 9

Alias

CMD1|CMPD1|SRA1|SRXX2|SRXY10

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].

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