MMAA

Methylmalonic aciduria type A protein, mitochondrial also known as MMAA is a is_associated_with::protein that in humans is encoded by the MMAA is_associated_with::gene.

Function
The protein encoded by this gene is involved in the translocation of cobalamin into the is_associated_with::mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of is_associated_with::methylmalonyl-CoA mutase.

Clinical significance
Mutations in the MMAA gene are associated with is_associated_with::methylmalonic acidemia.