This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group.
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Protein Aliases: aquocob(I)alamin vitamin B12s adenosyltransferase; ATP:cob(I)alamin adenosyltransferase; ATP:corrinoid adenosyltransferase; ATR; cblB; CFAP23; cilia and flagella associated protein 23; cob; Cob(II)alamin adenosyltransferase; Cob(II)yrinic acid a,c-diamide adenosyltransferase; Cobinamide/cobalamin adenosyltransferase; Corrinoid adenosyltransferase; Methylmalonic aciduria type B protein
Gene Aliases: ATR; cblB; CFAP23; cob; MMAB
UniProt ID: (Human) Q96EY8
Entrez Gene ID: (Human) 326625