Aliases for SOX9 Gene
External Ids for SOX9 Gene
Previous Symbols 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 (Sex Determining Region Y)-Box 9) is a Protein Coding gene. Diseases associated with SOX9 include campomelic dysplasia and pierre robin syndrome. Among its related pathways are ERK Signaling and GPCR Pathway. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein kinase activity. An important paralog of this gene is SOX3.
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