Gene:
SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)
Gene ID:
208261
Symbol:
SOX9
Species:
1000
Description:
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.