POLE, Official Symbol POLEprovided by HGNC Official Full Name DNA polymerase epsilon, catalytic subunitprovided by HGNC Primary source HGNC:HGNC:9177 See related Ensembl:ENSG00000177084 MIM:174762; AllianceGenome:HGNC:9177 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FILS; POLE1; CRCS12; IMAGEI Summary This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013] Expression Broad expression in bone marrow (RPKM 12.9), testis (RPKM 10.8) and 24 other tissues See more Orthologs mouse all