MTRR wt Allele

Preferred Label : MTRR wt Allele;

NCIt synonyms : 5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase wt Allele; MSR; cblE;

NCIt definition : Human MTRR wild-type allele is located in the vicinity of 5p15.31 and is approximately 55 kb in length. This allele, which encodes methionine synthase reductase protein, is involved in both B vitamin metabolism and methionine synthesis. Mutation of the gene is associated with both folate-sensitive neural tube defects and methylcobalamin deficiency type E.;

GenBank Accession Number : AF025794;

Details

Origin ID

C105127;

UMLS CUI

C3539708;

OMIM relation
- Methionine synthase reductase [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_plays_role_in_process
- Amino Acid Biosynthesis [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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