MMACHC:cob(II)alamin binds MMADHC

Stable Identifier
R-HSA-3149494
Type
Reaction
Species
Homo sapiens
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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).

Literature References
PubMed ID Title Journal Year
21071249 Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B?? metabolism

Hancock, MA, Ng-Thow-Hing, C, Paquette, SG, Gibbs, BF, Rosenblatt, DS, Plesa, M, Kim, J, Coulton, JW, Gagnon, H

Mol. Genet. Metab. 2011
18385497 Gene identification for the cblD defect of vitamin B12 metabolism

Coelho, D, Baumgartner, MR, Rosenblatt, DS, Suormala, T, Newbold, RF, Stucki, M, Fowler, B, Lerner-Ellis, JP

N. Engl. J. Med. 2008
33797888 Redox-Linked Coordination Chemistry Directs Vitamin B12 Trafficking

Gouda, H, Pillay, S, Banerjee, R

Acc Chem Res 2021
23270877 Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism

Deme, JC, Rosenblatt, DS, Mah, W, Shoubridge, EA, Fung, S, Watkins, D, Coulton, JW, Janer, A

Mol. Genet. Metab. 2013
22832074 Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism

Hancock, MA, Kim, JC, Deme, JC, Rosenblatt, DS, Plesa, M, Miousse, IR, Mah, W, Coulton, JW

Mol. Genet. Metab. 2012
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