The MMAA gene provides instructions for making a protein that is involved in the formation of a compound called adenosylcobalamin (AdoCbl). AdoCbl, which is derived from vitamin B12 (also called cobalamin), is necessary for the normal function of an enzyme known as methylmalonyl CoA mutase. This enzyme helps break down certain proteins, fats (lipids), and cholesterol.
Research indicates that the MMAA protein may play a role in one of the last steps in AdoCbl formation, the transport of vitamin B12 into mitochondria (specialized structures inside cells that serve as energy-producing centers). Additional chemical reactions then convert vitamin B12 into AdoCbl. Other studies suggest that the MMAA protein may help stabilize methylmalonyl CoA mutase and protect the enzyme from being turned off (inactivated).
Other Names
cblA; methylmalonic aciduria (cobalamin deficiency) cblA type; methylmalonic aciduria (cobalamin deficiency) type A; methylmalonic aciduria type A; MMAA_HUMAN
Related Genetics Topics
Identifiers
- NCBI Gene: 166785
- OMIM: 607481
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
