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Search results 1 to 2 out of 2 for Mmachc

Category restricted to ProteinDomain (x)

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Category: ProteinDomain
Type Details Score
Protein Domain
Type: Family
Description: MMACHC, also known as Cyanocobalamin reductase / alkylcobalamin dealkylase, is involved in the intracellular processing of vitamin B12 by catalyzing two reactions: the reductive decyanation of cyanocobalamin in the presence of a flavoprotein oxidoreductase and the dealkylation of alkylcobalamins through the nucleophilic displacement of the alkyl group by glutathione [, ]. Mutations in the MMACHC gene have been linked to a disease known as Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), the most common inborn error of vitamin B(12) (cobalamin) metabolism. The C-terminal region of this protein folds similarly to TonB, a bacterial protein involved in energy transduction for cobalamin uptake [].The structure of MMACHC reveals it to be the most divergent member of the NADPH-dependent flavin reductase family that can use FMN or FAD to catalyze reductive decyanation; it is also the first enzyme with glutathione transferase (GST) activity that is unrelated to the GST superfamily in structure and sequence [].
Protein Domain
Type: Family
Description: This entry represents methylmalonic aciduria and homocystinuria type D protein (also known as cobalamin trafficking protein CblD) and homologues. These proteins are involved in cobalamin (vitamin B12) metabolism and trafficking [, , , ]CblD plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl) [, , ]. It also promotes the oxidation of cob(II)alamin bound to MMACHC [].