MTHFD1 wt Allele

Preferred Label : MTHFD1 wt Allele;

NCIt synonyms : Methylenetetrahydrofolate Dehydrogenase (NADP Dependent) 1, Methenyltetrahydrofolate Cyclohydrolase, Formyltetrahydrofolate Synthetase wt Allele; MTHFC; MTHFD;

NCIt definition : Human MTHFD1 wild-type allele is located in the vicinity of 14q24 and is approximately 72 kb in length. This allele, which encodes C-1-tetrahydrofolate synthase, cytoplasmic protein, is involved in the metabolism of folic acid. Mutation of the gene is associated with susceptibility to folate-sensitive neural tube defects.;

GenBank Accession Number : J04031;

Details

Origin ID

C104922;

UMLS CUI

C3541989;

OMIM relation
- Methylenetetrahydrofolate dehydrogenase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q24 [NCIt concept]
gene_is_element_in_pathway
- One Carbon Pool by Folate Pathway [NCIt concept]
gene_plays_role_in_process
- Folic Acid Metabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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