HERC2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human HERC2 wild-type allele is located in the vicinity of 15q13 and is approximately 211 kb in length. This allele, which encodes E3 ubiquitin-protein ligase HERC2 protein, plays a role in the modulation of both DNA repair and protein ubiquitination. Variation in the gene defines the skin/hair/eye pigmentation variation locus 1, and mutation of the gene is associated with autosomal recessive mental retardation 38.

**Synonyms:** - D15F37S1 - HECT Domain and RCC1-Like Domain 2 Gene - HECT and RLD Domain Containing E3 Ubiquitin Protein Ligase 2 wt Allele - Hect Domain and RLD 2 Gene - MRT38 - SHEP1 - jdf2 - p528