" /> MMACHC wt Allele - CISMeF





Preferred Label : MMACHC wt Allele;

NCIt synonyms : cblC; Methylmalonic Aciduria (Cobalamin Deficiency) cblC Type, with Homocystinuria Gene; DKFZP564I122; Metabolism of Cobalamin Associated C wt Allele;

NCIt definition : Human MMACHC wild-type allele is located in the vicinity of 1p34.1 and is approximately 13 kb in length. This allele, which encodes cyanocobalamin reductase / alkylcobalamin dealkylase protein, plays a role in cobalamin transport and the conversion of cyanocobalamin and alkylcobalamin to cobalamin. Mutation of the gene is associated with methylmalonic aciduria and homocystinuria cblC type.;

NCI Metathesaurus CUI : CL1926458;

GenBank Accession Number : NM_015506;

Détails


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31/07/2025


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