MTR wt Allele - CISMeF

Preferred Label : MTR wt Allele;

NCIt synonyms : MS; cblG; 5-Methyltetrahydrofolate-Homocysteine Methyltransferase wt Allele;

NCIt definition : Human MTR wild-type allele is located in the vicinity of 1q43 and is approximately 109 kb in length. This allele, which encodes methionine synthase protein, is involved in the synthesis of methionine. Mutation of the gene is associated with both methylcobalamin deficiency type G and susceptibility to folate-sensitive neural tube defects.;

GenBank Accession Number : U73338;

Details

Origin ID

C104948;

UMLS CUI

C3539704;

OMIM relation
- 5-methyltetrahydrofolate-homocysteine s-methyltransferase [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
- 1q43 [NCIt concept]
gene_is_element_in_pathway
- Cysteine and Methionine Metabolism Pathway [NCIt concept]
- One Carbon Pool by Folate Pathway [NCIt concept]
- Selenoamino Acid Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Amino Acid Biosynthesis [NCIt concept]
- Folic Acid Metabolic Process [NCIt concept]
- Methylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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