Methylmalonic aciduria type A protein, mitochondrial also known as MMAA is a protein that in humans is encoded by the MMAA gene.
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
External links
- GeneReviews/NCBI/NIH/UW entry on Methylmalonic Acidemia
Further reading
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
