Structural highlights
Disease
SOX9_HUMAN Campomelic dysplasia;46,XX testicular disorder of sex development;46,XX ovotesticular disorder of sex development. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry.
Function
SOX9_HUMAN Plays an important role in the normal skeletal development. May regulate the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genes.
