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.
Aliases: CMD1; SRA1; CMPD1
Entrez GeneID: 6662
Swissprot: P48436
WB Predicted band size: 56kDa
Host/Isotype: Mouse IgG1
Species Reactivity: Human
Immunogen: Purified recombinant fragment of human SOX9 expressed in E. Coli.