Cyanocobalamin Reductase / Alkylcobalamin Dealkylase

Preferred Label : Cyanocobalamin Reductase / Alkylcobalamin Dealkylase;

NCIt synonyms : EC 1.16.1.6; CblC; EC 2.5.1.15; Alkylcobalamin:Glutathione S-Alkyltransferase; Cyanocobalamin Reductase (Cyanide-Eliminating); MMACHC; Methylmalonic Aciduria and Homocystinuria Type C Protein;

NCIt definition : Cyanocobalamin reductase / alkylcobalamin dealkylase (282 aa, 32 kDa) is encoded by the human MMACHC gene. This protein is involved in cobalamin transport and the decyanation of cyanocob(III)alamin (cyanocobalamin, CNCbl) to yield cob(II)alamin and cyanide and the dealkylation of alkylcob(III)alamins using a thiolate of glutathione to generate cob(I)alamin and the corresponding glutathione thioether.;

Details

Origin ID

C203798;

UMLS CUI

C1701866;

OMIM relation
- Metabolism of Cobalamin associated C [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- MMACHC protein, human [MeSH Supplementary Concept]
- MMACHC protein, human [MeSH concept]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- MMACHC Gene [NCIt concept]
- Oxidoreductase Gene [NCIt concept]
- Transferase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cytoplasm [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Cofactors and Vitamins Metabolism Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Biosynthetic Process [NCIt concept]
- Intermediary Metabolic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Protein Dimerization [NCIt concept]

Keyword's position in hierarchy(ies) :

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