SOX9

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SOX9

A gene on chromosome 17q23 that encodes a member of the SOX (SRY-related HMG-box) family of transcription factors. SOX9 acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone gene (AMH).
 
Molecular pathology
SOX9 mutations are associated with campomelic dysplasia, a skeletal malformation syndrome, which may be accompanied by sex reversal.