ZNF596

Chr 8

zinc finger protein 596

NCBI Gene: 169270 ENSG00000172748 UniProt: Q8TC21

This protein functions as a DNA-binding transcription factor that regulates RNA polymerase II transcription in the nucleus. Mutations in ZNF596 cause autosomal recessive neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy. The gene shows very low constraint against loss-of-function variants (LOEUF 1.544), consistent with the recessive inheritance pattern where both copies must be affected to cause disease.

ResearchSummary from RefSeq, UniProt

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)