PKLR wt Allele

Preferred Label : PKLR wt Allele;

NCIt synonyms : RPK; PKL; Pyruvate Kinase, Liver Type Gene; Pyruvate Kinase, Liver and RBC Gene; PKRL; PK1; PKR; Pyruvate Kinase, Red Cell Type Gene; Pyruvate Kinase L/R wt Allele;

NCIt definition : Human PKLR wild-type allele is located in the vicinity of 1q22 and is approximately 19 kb in length. This allele, which encodes pyruvate kinase PKLR protein, is involved in glycolysis.;

NCI Metathesaurus CUI : CL936912;

GenBank Accession Number : BC025737;

Details

Origin ID

C157137;

UMLS CUI

C4761539;

Automatic exact mappings (from CISMeF team)
- Eukaryotic translation initiation factor 2-alpha kinase 2 [OMIM gene]
- Prickle planar cell polarity protein 1 [OMIM gene]
- Prokineticin 1 [OMIM gene]
- Pyruvate kinase, liver and red blood cell [OMIM gene]
- Reticulate acropigmentation of kitamura [OMIM Phenotype]
- polycystic kidney diseases [MeSH Descriptor]
OMIM relation
- Pyruvate kinase, liver and red blood cell [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
- 1q22 [NCIt concept]
gene_is_element_in_pathway
- FOXA2 and FOXA3 Transcription Factor Signaling Pathway [NCIt concept]
- Glycolysis/Gluconeogenesis Pathway [NCIt concept]
- Insulin/Insulin Receptor Signaling Pathway [NCIt concept]
- Maturity Onset Diabetes of the Young Pathway [NCIt concept]
- Purine Metabolism Pathway [NCIt concept]
- Pyruvate Metabolism Pathway [NCIt concept]
- Type II Diabetes Mellitus Pathway [NCIt concept]
gene_plays_role_in_process
- Glycolysis [NCIt concept]
- Phosphorylation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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