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 Pierre Robin Syndrome. Among its related pathways are Neural Crest Differentiation and cAMP signaling pathway. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and protein kinase activity. An important paralog of this gene is SOX10.
UniProtKB/Swiss-Prot for SOX9 Gene
Transcriptional regulator (PubMed:24038782). Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with ZNF219 (By similarity). Plays a role in chondrocyte differentiation (By similarity). Important for normal skeletal development (PubMed:24038782).