SOX9
LOCUS ID6662
GENE_SYMBOLSOX9
GENE NAMESRY (sex determining region Y)-box 9
SYNONYMNSCMD1, SRA1, CMPD1
CHROMOSOME17
HOMOLOGENE ID294
microRNAsNANA
GENE SUMMARY
The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class D-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]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. HIF-1alpha and BMP4 induce SOX9 expression and subsequent chondrogenic phenotype change in DN.21795715