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SOX9 SRY-box transcription factor 9

Gene ID: 6662, updated on 17-Jan-2022
Gene type: protein coding
Also known as: CMD1; SRA1; CMPD1; SRXX2; SRXY10


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]

Associated conditions

See all available tests in GTR for this gene

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
GeneReviews: Not available
Camptomelic dysplasia
MedGen: C1861922OMIM: 114290GeneReviews: Campomelic Dysplasia
See labs
Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies.
GeneReviews: Not available
Genetics of coronary artery calcification among African Americans, a meta-analysis.
GeneReviews: Not available
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
GeneReviews: Not available
Genome-wide association study of lung function decline in adults with and without asthma.
GeneReviews: Not available
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
GeneReviews: Not available
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
GeneReviews: Not available
Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3.
GeneReviews: Not available

Genomic context

Chromosome: 17; NC_000017.11 (72121020..72126416)
Total number of exons:


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