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Uncharacterized Protein C2orf25, Mitochondrial

Known as: Methylmalonic Aciduria, cblD Type, And Homocystinuria Protein, C2orf25 Protein, MMADHC 
Methylmalonic aciduria and homocystinuria type D protein, mitochondrial (296 aa, ~33 kDa) is encoded by the human MMADHC gene. This protein plays a… 
National Institutes of Health

Related topics

Related topics

6 relations
Genes, RegulatorHomo sapiensMMADHC geneMMADHC wt Allele

Papers overview

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2017
2017
Mutation of the MMADHC gene in adult-onset cobalamin D deficiency: A report of 2 potentially treatable cases.
2013
2013
Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.
Highly Cited
2012
Highly Cited
2012
Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.
The cblD defect of intracellular vitamin B(12) metabolism can lead to isolated methylmalonic aciduria (cblD-MMA) or… 
2012
2012
Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism.
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