TPI1 wt Allele

Preferred Label : TPI1 wt Allele;

NCIt synonyms : TPI; TIM; Triosephosphate Isomerase 1 wt Allele;

NCIt definition : Human TPI1 wild-type allele is located in the vicinity of 12p13.31 and is approximately 4 kb in length. This allele, which encodes triosephosphate isomerase protein, is involved in the isomerization of both glyceraldehyde 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in both glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency.;

NCIt note : Alternative splicing results in multiple transcript variants.; Pseudogenes have been identified on chromosomes 1, 4, 6 and 7.;

GenBank Accession Number : NM_000365;

Details

Origin ID

C105558;

UMLS CUI

C3541335;

OMIM relation
- Triosephosphate isomerase 1 [OMIM Phenotype]
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
- 12p13.31 [NCIt concept]
gene_is_element_in_pathway
- Fructose and Mannose Metabolism Pathway [NCIt concept]
- Glycolysis/Gluconeogenesis Pathway [NCIt concept]
- Inositol Phosphate Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Gluconeogenic Process [NCIt concept]
- Glycolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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