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SOX9


Official Full Name
SRY-box transcription factor 9
Organism
Homo sapiens
Gene ID
6662
Background
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]
Synonyms
TES; CMD1; SRA1; CMPD1; ENH13; SRXX2; TESCO; SRXY10

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