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. Alternatively spliced transcript variants have been found.
Immunogen Information
Immunogen
Fusion protein of human MMAB
Swissprot
Q96EY8
Synonyms
aquocob(I)alamin vitamin B12s adenosyltransferaseATP:cob(I)alamin adenosyltransferaseATP:corrinoid adenosyltransferaseATRc-diamide adenosyltransferasecblBCobCob(I)alamin adenosyltransferaseCob(I)yrinic acid acob(I)yrinic acid a c diamide adenos