PGK1 wt Allele

Preferred Label : PGK1 wt Allele;

NCIt synonyms : PGKA; RP4-570L12.1; Phosphoglycerate Kinase 1 wt Allele; OK/SW-cl.110; MIG10;

NCIt definition : Human PGK1 wild-type allele is located in the vicinity of Xq13.3 and is approximately 64 kb in length. This allele, which encodes phosphoglycerate kinase 1 protein, is involved in both glycolysis and gluconeogenesis. Mutation of the gene is associated with phosphoglycerate kinase 1 deficiency.;

GenBank Accession Number : L00159;

Details

Origin ID

C105854;

UMLS CUI

C3814869;

Automatic exact mappings (from CISMeF team)
- Phosphoglycerate kinase 1 [OMIM gene]
OMIM relation
- Phosphoglycerate kinase 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_is_element_in_pathway
- Glycolysis/Gluconeogenesis Pathway [NCIt concept]
- HIF-1-Alpha Transcription Factor Pathway [NCIt concept]
- HIF-2-Alpha Transcription Factor Pathway [NCIt concept]
gene_plays_role_in_process
- Gluconeogenic Process [NCIt concept]
- Glycolysis [NCIt concept]
- Phosphorylation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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