CYB5R3 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CYB5R3 wild-type allele is located in the vicinity of 22q13.2 and is approximately 105 kb in length. This allele, which encodes NADH-cytochrome b5 reductase 3 protein, is involved in fatty acid metabolism, cholesterol biosynthesis and the reduction of methemoglobin. Mutations in the gene are associated with CYB5R3-related methemoglobinemia.

**Synonyms:** - B5R - Cytochrome B5 Reductase 3 wt Allele - DIA1 - Diaphorase (NADH) (Cytochrome B-5 Reductase) Gene - NADH-Diaphorase 1 Gene