Entrez 166785 | Ensembl ENSG00000151611 | |
Aliases MMAA, cblA, methylmalonic aciduria (cobalamin deficiency) cblA type External IDs MGI: 1923805 HomoloGene: 14586 GeneCards: MMAA | ||
Methylmalonic aciduria type A protein, mitochondrial also known as MMAA is a protein that in humans is encoded by the MMAA gene.
Contents
Function
The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase.
Clinical significance
Mutations in the MMAA gene are associated with methylmalonic acidemia.
References
MMAA Wikipedia(Text) CC BY-SA