The sex determining region Y-box 9 (SOX9) gene is mapped to human chromosome 17q24.3. This gene is expressed mainly in adult tissues and also in fetal testis and skeletal tissue. It consists of two functional domains: a high-mobility group (HMG) DNA-binding domain and a C-terminal transactivation domain.
SOX9, (sex determining region Y-box 9) a transcription factor, is associated with the testis-determining factor sex determining region Y (SRY). It plays a major role in cartilage differentiation and early testis development. It has been reported that SOX9 might play a role in chondrogenesis. Mutation of SOX9 gene in human causes campomelic dysplasia, a severe dwarfism syndrome and autosomal XY sex reversal.
