POLE wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human POLE wild-type allele is located in the vicinity of 12q24.3 and is approximately 213 kb in length. This allele, which encodes DNA polymerase epsilon catalytic subunit A protein, plays a role in both DNA base-excision repair and DNA replication. Mutation of the gene may be associated with both increased susceptibility to colorectal malignancies and facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) syndrome.

**Synonyms:** - CRCS12 - DNA Polymerase Epsilon, Catalytic Subunit wt Allele - FILS - IMAGEI - POLE1 - Polymerase (DNA Directed), Epsilon Gene - Polymerase (DNA Directed), Epsilon, Catalytic Subunit Gene - Polymerase (DNA Directed), Epsilon-1 Gene - Polymerase, DNA, Epsilon Gene - Polymerase, DNA, Epsilon-1 Gene