MMAB : metabolism of cobalamin associated B


Description

The MMAB (metabolism of cobalamin associated B) is a protein-coding gene located on chromosome 12.

The MMAB gene encodes an enzyme essential for the production of adenosylcobalamin (AdoCbl), a compound derived from vitamin B12. AdoCbl is critical for the activity of methylmalonyl CoA mutase, an enzyme responsible for breaking down certain proteins, fats, and cholesterol. MMAB functions within mitochondria, the energy-producing centers of cells. It converts a form of vitamin B12 called cob(I)alamin to AdoCbl within these organelles. Studies suggest MMAB may also directly deliver AdoCbl to methylmalonyl CoA mutase.

MMAB converts cob(I)alamin to adenosylcobalamin (AdoCbl), a crucial coenzyme for methylmalonyl-CoA mutase. This conversion represents the final step in vitamin B12 processing. Following its generation, AdoCbl is directly delivered to the MUT enzyme, facilitated by ATP binding to MMAB and potentially regulated by MMAA.

MMAB is also known as ATR, CFAP23, cblB, cob.

Associated Diseases


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