MMAA
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Methylmalonic aciduria type A protein, mitochondrial also known as MMAA is a protein that in humans is encoded by the MMAA gene.[1]
Function
[edit | edit source]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.[2]
Clinical significance
[edit | edit source]Mutations in the MMAA gene are associated with methylmalonic acidemia.[1][3]
References
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External links
[edit | edit source]Further reading
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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