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.
Immunogen Information
Immunogen
Recombinant protein of human SOX9
Gene ID
6662
Swissprot
P48436
Synonyms
campomelic dysplasia autosomal sex reversalCMD 1CMD1CMPD 1CMPD1SOX 9Sox9SOX9SRA 1SRA1SRXX2SRXY10SRY (sex determining region Y) box 9 (campomelic dysplasia autosomalSRY (sex determining region Y) box 9SRY (sex determining region Y)-box 9SRY