Synthesized peptide derived from human Sox-9 around the non-phosphorylation site of S181. Location: 120-200aa.
Alternative Names:
CMD1, SRA1, CMPD1, 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.
