MMAB wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human MMAB wild-type allele is located in the vicinity of 12q24.11 and is approximately 20 kb in length. This allele, which encodes corrinoid adenosyltransferase MMAB protein, is involved in the synthesis of adenosylcobalamin from cobalamin. Mutation of the gene is associated with vitamin B12-responsive methylmalonic aciduria cblB type.

**Synonyms:** - ATR - Aquocob(I)Alamin Vitamin B12s Adenosyltransferase Gene - CFAP23 - Cilia and Flagella Associated Protein 23 Gene - Metabolism of Cobalamin Associated B wt Allele - Methylmalonic Aciduria (Cobalamin Deficiency) Type B Gene - Methylmalonic Aciduria (Cobalamin Deficiency) cblB Type Gene - cblB - cob