SOX9 SRY-box transcription factor 9 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 6662)
Source: NCBI Gene (ID 6662)
Symbol: SOX9
Full name: SRY-box transcription factor 9
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: CMD1; CMPD1; SRA1; SRXX2; SRXY10
Summary: 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]
Expression: Broad expression in testis (RPKM 26.5), brain (RPKM 25.2) and 17 other tissues
Orthologs: mouse
Gene size: 5397bp
Exon count: 3