MMAB
Function
Converts cob(I)alamin to adenosylcobalamin (adenosylcob(III)alamin), a coenzyme for methylmalonyl-CoA mutase, therefore participates in the final step of the vitamin B12 conversion (PubMed:12514191). Generates adenosylcobalamin (AdoCbl) and directly delivers the cofactor to MUT in a transfer that is stimulated by ATP-binding to MMAB and gated by MMAA (Probable).
Involvement in disease
Methylmalonic aciduria type cblB
MMAB
A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Cob(I)alamin adenosyltransferase family.
Tissue Specificity
Expressed in liver and skeletal muscle.
Cellular localization
- Mitochondrion
Alternative names
Corrinoid adenosyltransferase MMAB, ATP:co(I)rrinoid adenosyltransferase MMAB, Methylmalonic aciduria type B protein, MMAB