MMAA wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human MMAA wild-type allele is located in the vicinity of 4q31.21 and is approximately 61 kb in length. This allele, which encodes methylmalonic aciduria type A protein, mitochondrial, plays a role in cobalamin transport, adenosylcobalamin (AdoCbl) synthesis and GTP hydrolysis. Mutation of the gene is associated with vitamin B12-responsive methylmalonic aciduria cblA type.

**Synonyms:** - Metabolism of Cobalamin Associated A wt Allele - Methylmalonic Aciduria (Cobalamin Deficiency) Type A Gene - Methylmalonic Aciduria (Cobalamin Deficiency) cblA Type Gene - cblA