SOX9, Official Symbol SOX9provided by HGNC Official Full Name SRY-box transcription factor 9provided by HGNC Primary source HGNC:HGNC:11204 See related Ensembl:ENSG00000125398 MIM:608160; AllianceGenome:HGNC:11204 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CMD1; SRA1; CMPD1; 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 See more Orthologs mouse all