DMRT3

Chr 9

doublesex and mab-3 related transcription factor 3

Also known as: DMRTA3

NCBI Gene: 58524 ENSG00000064218 UniProt: Q9NQL9

Encodes a transcription factor that regulates spinal cord interneuron specification and development of locomotor circuits controlling coordinated limb movements and gait. Mutations cause autosomal recessive developmental and epileptic encephalopathy-52 with abnormal gait and movement disorders. This gene is highly constrained against loss-of-function variants, indicating that biallelic mutations likely represent severe disruptions to normal protein function.

ResearchSummary from RefSeq, UniProt

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in adult locomotory behavior; regulation of transcription by RNA polymerase II; and sex differentiation. Predicted to act upstream of or within several processes, including adult walking behavior; regulation of odontogenesis of dentin-containing tooth; and ventral spinal cord interneuron specification. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.17

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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