DMRT1

Chr 9

doublesex and mab-3 related transcription factor 1

Also known as: CT154, DMT1

NCBI Gene: 1761 ENSG00000137090 UniProt: Q9Y5R6

DMRT1 encodes a transcription factor that controls male sex determination and testis development by regulating spermatogonial cell proliferation and preventing meiosis in undifferentiated germ cells. Mutations cause disorders of sex development, specifically XY gonadal dysgenesis with defective testicular development and feminization in individuals with XY chromosomes. The gene shows autosomal inheritance and is highly constrained against loss-of-function mutations (LOEUF 0.479), reflecting its critical role in male sexual development.

GeneReviews ResearchSummary from RefSeq, UniProt

This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtTesticular germ cell tumor

UniProt46,XY sex reversal 4

Clinical highlights

Gene-disease validity (ClinGen)

spermatogenic failure · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

120

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.48

LOEUF

LOF

Mechanism· predicted

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