MMADHC wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human MMADHC wild-type allele is located in the vicinity of 2q23.2 and is approximately 18 kb in length. This allele, which encodes Methylmalonic aciduria and homocystinuria type D protein, mitochondrial, plays a role in the mediation of vitamin B12 metabolism. Mutation of the gene is associated with some cases of homocystinuria, and methylmalonic aciduria.

**Synonyms:** - C2orf25 - CL25022 - Chromosome 2 Open Reading Frame 25 Gene - HSPC161 - Methylmalonic Aciduria (Cobalamin Deficiency) cblD Type, with Homocystinuria wt Allele - Methylmalonic Aciduria, cblD Type, and Homocystinuria Gene - My011 - cblD