MMAA:MUT binds AdoCbl

Stable Identifier
R-HSA-3159259
Type
Reaction [binding]
Species
Homo sapiens
Compartment
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Methylmalonyl-CoA mutase (MUT aka MCM) (Jansen et al. 1989) utilises adenosylcobalamin (AdoCbl) as a cofactor and catalyses interchange of a carbonyl-CoA group and a hydrogen atom in conversion of methymalonyl-CoA to form succinyl-CoA, a precursor for the citric acid cycle. MUT has a homodimeric structure and is located in the mitochondrial matrix. Defects in MUT cause methylmalonic aciduria type mut (MMAM; MIM:251000), an often fatal disorder of organic acid metabolism (Worgan et al. 2006).

Methylmalonic aciduria type A protein (MMAA) (Dobson et al. 2002) is thought to act as a chaperone to MUT and is suggested to play a dual role with regards to MUT protection and reactivation.

Defects in MMAA cause methylmalonic aciduria type cblA (MMAA aka methylmalonic aciduria type A or vitamin B12-responsive methylmalonicaciduria of cblA complementation type; MIM:251100). Affected individuals accumulate methylmalonic acid in the blood and urine and are prone to potentially life threatening acidotic crises in infancy or early childhood (Dobson et al. 2002, Lerner-Ellis et al. 2004).

Literature References
PubMed ID Title Journal Year
16281286 Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype

Worgan, LC, Niles, K, Tirone, JC, Hofmann, A, Verner, A, Sammak, A, Kucic, T, Lepage, P, Rosenblatt, DS

Hum. Mutat. 2006
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
15523652 Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism

Lerner-Ellis, JP, Dobson, CM, Wai, T, Watkins, D, Tirone, JC, Leclerc, D, Doré, C, Lepage, P, Gravel, RA, Rosenblatt, DS

Hum. Mutat. 2004
2567699 Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction

Jansen, R, Kalousek, F, Fenton, WA, Rosenberg, LE, Ledley, FD

Genomics 1989
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