Reactome | MMAB transfers adenosyl group from ATP to cob(I)alamin

MMAB transfers adenosyl group from ATP to cob(I)alamin

Stable Identifier

R-HSA-3159253

Type

Reaction [transition]

Species

Homo sapiens

Compartment

mitochondrial matrix

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MMAB transfers adenosyl group from ATP to cob(I)alamin

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Mitochondrial cob(I)yrinic acid a,c-diamide adenosyltransferase (MMAB) is an enzyme involved in the adenosylation of cobalamin. MMAB transfers an adenosyl group from ATP to cob(I)alamin (B_12s) to form adenosylcabalamin (AdoCbl) (Fan & Bobik 2008, Leal et al. 2003). Defects in MMAB cause methylmalonic aciduria type cblB (MMAB aka methylmalonic aciduria type B or vitamin B₁₂-responsive methylmalonicaciduria of cblB complementation type; MIM:251110). Affected individuals have methylmalonic aciduria and metabolic ketoacidosis, despite a functional methylmalonyl-CoA mutase. In severe cases, newborns become severely acidotic and may die if acidosis is not treated promptly (Dobson et al. 2002).

Literature References

PubMed ID	Title	Journal	Year
18251506	Functional characterization and mutation analysis of human ATP:Cob(I)alamin adenosyltransferase Fan, C, Bobik, TA	Biochemistry	2008
12438653	Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements Dobson, CM, Wai, T, Leclerc, D, Wilson, A, Wu, X, Doré, C, Hudson, T, Rosenblatt, DS, Gravel, RA	Proc. Natl. Acad. Sci. U.S.A.	2002
12514191	Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant Leal, NA, Park, SD, Kima, PE, Bobik, TA	J. Biol. Chem.	2003