MMACHC wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human MMACHC wild-type allele is located in the vicinity of 1p34.1 and is approximately 13 kb in length. This allele, which encodes cyanocobalamin reductase / alkylcobalamin dealkylase protein, plays a role in cobalamin transport and the conversion of cyanocobalamin and alkylcobalamin to cobalamin. Mutation of the gene is associated with methylmalonic aciduria and homocystinuria cblC type.

**Synonyms:** - DKFZP564I122 - Metabolism of Cobalamin Associated C wt Allele - Methylmalonic Aciduria (Cobalamin Deficiency) cblC Type, with Homocystinuria Gene - cblC