Aliases for SOX9 Gene
External Ids for SOX9 Gene
Previous HGNC Symbols for SOX9 Gene
Previous GeneCards Identifiers for SOX9 Gene
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]
GeneCards Summary for SOX9 Gene
SOX9 (SRY-Box 9) is a Protein Coding gene. Diseases associated with SOX9 include campomelic dysplasia and isolated pierre robin syndrome. Among its related pathways are Signaling by GPCR and cAMP signaling pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein kinase activity. An important paralog of this gene is SOX11.
UniProtKB/Swiss-Prot for SOX9 Gene
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.