In a complex reaction, MMAB (mitochondrial cob(I)yrinic acid a,c diamide adenosyltransferase) homotrimer mediates the conversion of cob(II)alamin to a transient cob(I)alamin form which is then adenosylated to form adenosylcobalamin (AdoCbl) (Banerjee et al. 2021; Campanello et al. 2018; Fan & Bobik 2008, Leal et al. 2003; Stich et al. 2005). 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 potentially life-threatening methylmalonic aciduria and metabolic ketoacidosis, despite a functional methylmalonyl CoA mutase (Dobson et al. 2002).
Gouda, H, Pillay, S, Banerjee, R
Dobson, CM, Hudson, T, Doré, C, Gravel, RA, Rosenblatt, DS, Wu, X, Leclerc, D, Wai, T, Wilson, A
Bobik, TA, Fan, C
Gouda, H, Killian, MM, Rosenblatt, DS, Gupta, A, Banerjee, R, Watkins, D, Smith, JL, Ruetz, M, Brunold, TC, Twahir, UT, Campanello, GC, Dodge, GJ, Warncke, K
Stich, TA, Brunold, TC, Banerjee, R, Yamanishi, M
Bobik, TA, Kima, PE, Park, SD, Leal, NA
transferase activity, transferring alkyl or aryl (other than methyl) groups of 3xMMAB [mitochondrial matrix]
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