MMAB

Cobyrinic acid a,c-diamide adenosyltransferase, mitochondrial is an enzyme that in humans is encoded by the MMAB gene.

Function

This gene encodes an enzyme that catalyzes the final step in the conversion of vitamin B₁₂ into adenosylcobalamin, a vitamin B₁₂-containing coenzyme for methylmalonyl-CoA mutase.

Clinical significance

Mutations in the gene are the cause of vitamin B₁₂-dependent methylmalonic aciduria linked to the cblB complementation group.