SOX9

Chr 17

SRY-box transcription factor 9

Also known as: CMD1, CMPD1, ENH13, SRA1, SRXX2, SRXY10, TESCO

NCBI Gene: 6662 ENSG00000125398 UniProt: P48436

The encoded transcription factor binds DNA to regulate chondrocyte differentiation and, together with steroidogenic factor 1, controls transcription of the anti-Müllerian hormone gene. Loss-of-function mutations cause autosomal dominant campomelic dysplasia, a skeletal malformation syndrome that frequently includes 46,XY or 46,XX sex reversal. The gene is highly intolerant to loss-of-function variation, consistent with the severe skeletal and gonadal developmental abnormalities observed in affected individuals.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCampomelic dysplasia

UniProt46,XX sex reversal 2

UniProt46,XY sex reversal 10

Clinical highlights

Gene-disease validity (ClinGen)

Cooks syndrome · ADLimitednot for standalone diagnostic reporting3 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

903

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.17

LOEUF· LoF intol.

LOF

Mechanism· G2P

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