Methylenetetrahydrofolate Reductase

Preferred Label : Methylenetetrahydrofolate Reductase;

NCIt synonyms : 5-methyltetrahydrofolate:NADP oxidoreductase; MTHFR; Methylenetetrahydrofolate Reductase (NADPH); EC 1.5.1.20;

NCIt definition : Methylenetetrahydrofolate reductase (656 aa, 75 kDa) is encoded by the human MTHFR gene. This protein plays a role in folate metabolism.;

NCIt note : EC 1.5.1.20 created 1978 as EC 1.1.1.171, transferred 1984 to EC 1.5.1.20. (from IUBMB).;

Details

Origin ID

C17311;

UMLS CUI

C3493232;

Currated CISMeF NLP mapping
- methylenetetrahydrofolate reductase (NADPH2) [MeSH concept]
- methylenetetrahydrofolate reductase (nadph) [SNOMED Notion]
False automatic mappings
- Methylenetetrahydrofolate reductase (reduced nicotinamide adenine dinucleotide phosphate) (substance) [SNOMED CT concept]
- methylenetetrahydrofolate reductase (NADPH2) [MeSH Descriptor]
OMIM relation
- 5,10-methylenetetrahydrofolate reductase [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- MTHFR protein, human [MeSH Supplementary Concept]
- MTHFR protein, human [MeSH concept]
- Methylenetetrahydrofolate reductase (reduced nicotinamide adenine dinucleotide phosphate) (substance) [SNOMED CT concept]
- methylenetetrahydrofolate reductase (NADPH2) [MeSH Descriptor]
- methylenetetrahydrofolate reductase (NADPH2) [MeSH concept]
- methylenetetrahydrofolate reductase (nadph) [SNOMED Notion]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- MTHFR Gene [NCIt concept]
- Oxidoreductase Gene [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- One Carbon Pool by Folate Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Folic Acid Metabolic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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