Gene: EPC1

Alternate names for this Gene: Epl1

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10p11.22

Description of this Gene: enhancer of polycomb homolog 1

Type of Gene: protein-coding

rs76164690 in EPC1 gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs10559647 in EPC1 gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs11592754 in EPC1 gene and Waist-Hip Ratio PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.