Reactome | MMACHC:cob(II)alamin binds MMADHC

MMACHC:cob(II)alamin binds MMADHC

Stable Identifier

R-HSA-3149494

Type

Reaction [transition]

Species

Homo sapiens

Compartment

cytosol

ReviewStatus

5/5

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MMACHC (Methylmalonic aciduria and homocystinuria type C protein) complexed with cob(II)alamin (vitamin B_12r) 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 Plesa, M, Kim, J, Paquette, SG, Gagnon, H, Ng-Thow-Hing, C, Gibbs, BF, Hancock, MA, Rosenblatt, DS, Coulton, JW	Mol. Genet. Metab.	2011
18385497	Gene identification for the cblD defect of vitamin B12 metabolism Coelho, D, Suormala, T, Stucki, M, Lerner-Ellis, JP, Rosenblatt, DS, Newbold, RF, Baumgartner, MR, Fowler, B	N. Engl. J. Med.	2008
33797888	Redox-Linked Coordination Chemistry Directs Vitamin B₁₂ Trafficking Banerjee, R, Gouda, H, Pillay, S	Acc Chem Res	2021
23270877	Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism Mah, W, Deme, JC, Watkins, D, Fung, S, Janer, A, Shoubridge, EA, Rosenblatt, DS, Coulton, JW	Mol. Genet. Metab.	2013
22832074	Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism Deme, JC, Miousse, IR, Plesa, M, Kim, JC, Hancock, MA, Mah, W, Rosenblatt, DS, Coulton, JW	Mol. Genet. Metab.	2012