MMADHC targets transport of cytosolic cob(II)alamin to mitochondria

Stable Identifier
R-HSA-3149563
Type
Reaction [omitted]
Species
Homo sapiens
Compartment
Synonyms
MMADHC targets cytosolic cob(II)alamin for entry to mitochondria
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Methylmalonic aciduria and homocystinuria type D protein (MMADHC) has sequence homology with a bacterial ATP-binding cassette transporter and contains a putative cobalamin binding motif and a putative mitochondrial targeting sequence which is thought to target cob(II)alamin (B12r) to the mitochondria (Stucki et al. 2012, Coelho et al. 2008). The actual mechanism of transport into the mitochondrion is unknown.

Literature References
PubMed ID Title Journal Year
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
22156578 Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism

Stucki, M, Coelho, D, Suormala, T, Burda, P, Fowler, B, Baumgartner, MR

Hum. Mol. Genet. 2012
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