ZNF732

Chr 4

zinc finger protein 732

NCBI Gene: 654254 ENSG00000186777 UniProt: B4DXR9

The encoded protein is a KRAB-containing zinc finger transcriptional repressor that functions by recruiting cofactors to induce heterochromatin formation and silence gene expression. Mutations in ZNF732 cause autosomal dominant developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, seizures, and distinctive facial features. The gene shows relatively low constraint to loss-of-function variation, suggesting the pathogenic variants may act through alternative mechanisms.

ResearchSummary from RefSeq, UniProt

This gene encodes a kruppel-associated box-containing zinc finger protein (KRAB-ZFP). The encoded protein contains an N-terminal kruppel-associated box (KRAB) domain and sixteen C-terminal C2H2-type zinc finger domains. The KRAB-ZFPs represent the largest family of mammalian transcriptional repressors, which function through the recruitment of the nuclear co-factor KRAB-Associated Protein 1 (KAP1), to engage histone modifiers and induce heterochromatin formation. [provided by RefSeq, Jul 2017]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.29

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)