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Browse result for methylmalonic aciduria and homocystinuria type cblC

※ introduction

    A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase.

Reference
DiseaseOntology: methylmalonic aciduria and homocystinuria type cblC



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD14864Q9Y4U125974
MMACHC
Cyanocobalamin reductase / alkylcobalamin dealkylase )
Homo sapiens