MMACHC (Methylmalonic aciduria and homocystinuria type C protein) complexed with cob(II)alamin (vitamin B12r) binds to MMADHC (methylmalonic aciduria and homocystinuria type D protein). Formation of this complex is required for the targeted delivery of cob(II)alamin to both cytosolic and mitochondrial enzymes (Mah et al. 2013, Plesa et al. 2011, Deme et al. 2012). but details of the mechanisms involved remain unclear (Banerjee et al. 2021).
Defects in MMADHC cause methylmalonic aciduria and homocystinuria type cblD (MMAHCD; MIM:277410), a disorder of Cbl metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) (Coelho et al. 2008).
Hancock, MA, Ng-Thow-Hing, C, Paquette, SG, Gibbs, BF, Rosenblatt, DS, Plesa, M, Kim, J, Coulton, JW, Gagnon, H
Coelho, D, Baumgartner, MR, Rosenblatt, DS, Suormala, T, Newbold, RF, Stucki, M, Fowler, B, Lerner-Ellis, JP
Gouda, H, Pillay, S, Banerjee, R
Deme, JC, Rosenblatt, DS, Mah, W, Shoubridge, EA, Fung, S, Watkins, D, Coulton, JW, Janer, A
Hancock, MA, Kim, JC, Deme, JC, Rosenblatt, DS, Plesa, M, Miousse, IR, Mah, W, Coulton, JW
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