EPC1

Chr 10

enhancer of polycomb 1

Also known as: Epl1

NCBI Gene: 80314 ENSG00000120616 UniProt: Q9H2F5

The EPC1 protein is a component of the NuA4 histone acetyltransferase complex that acetylates histones H4 and H2A to regulate gene transcription and plays a direct role in DNA double-strand break repair through homologous recombination. Mutations cause autosomal dominant neurodevelopmental disorder with intellectual disability, behavioral abnormalities, and variable features including seizures and autism spectrum disorder. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely pathogenic when they occur.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the polycomb group (PcG) family. The encoded protein is a component of the NuA4 histone acetyltransferase complex and can act as both a transcriptional activator and repressor. The encoded protein has been linked to apoptosis, DNA repair, skeletal muscle differentiation, gene silencing, and adult T-cell leukemia/lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

ResearchGenerating clinical summary…

Clinical highlights

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

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.13

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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