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Methylmalonic aciduria

This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008] (from NCBI)
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Papers on cblD
Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.
Baumgartner et al., Switzerland. In Hum Mol Genet, 2012
MMADHC mutations are associated with methylmalonic aciduria and homocystinuria.
Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B₁₂ metabolism.
Coulton et al., Montréal, Canada. In Mol Genet Metab, 2011
MMADHC was confirmed as a binding partner for MMACHC both in vitro (SPR) and in vivo (bacterial two-hybrid system).
Gene identification for the cblD defect of vitamin B12 metabolism.
Fowler et al., Basel, Switzerland. In N Engl J Med, 2008
mutations in a gene designated MMADHC (currently named C2orf25) are responsible for the cblD defect in vitamin B12 metabolism; various mutations are associated with each of the three biochemical phenotypes of the disorder
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