GPI wt Allele - CISMeF

Preferred Label : GPI wt Allele;

NCIt synonyms : PHI; PGI; Glucose Phosphate Isomerase wt Allele; SA-36; NLK; GNPI; AMF; SA36;

NCIt definition : Human GPI wild-type allele is located in the vicinity of 19q13.1 and is approximately 35 kb in length. This allele, which encodes glucose-6-phosphate isomerase protein, is involved in the reversible isomerization of glucose-6-phosphate and fructose-6-phosphate. Defects in the GPI gene cause congenital nonspherocytic hemolytic amemia.;

GenBank Accession Number : NM_000175;

Details

Origin ID

C50381;

UMLS CUI

C1704947;

OMIM relation
- Glucose-6-phosphate isomerase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 19: 39547909-39583076 [NCIt concept]
gene_in_chromosomal_location
- 19q13.1 [NCIt concept]
gene_is_element_in_pathway
- Amino and Nucleotide Sugars Metabolism Pathway [NCIt concept]
- Glycolysis Pathway [NCIt concept]
- Glycolysis/Gluconeogenesis Pathway [NCIt concept]
- Pentose Phosphate Cycle Pathway [NCIt concept]
- Starch and Sucrose Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- B-Cell Activation [NCIt concept]
- Cell Motility [NCIt concept]
- Gluconeogenic Process [NCIt concept]
- Glycolysis [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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