PFKM wt Allele

Preferred Label : PFKM wt Allele;

NCIt synonyms : Phosphofructokinase, Polypeptide X Gene; PFK1; PFK-1; PFKX; GSD7; Phosphofructokinase, Muscle wt Allele; PFKA;

NCIt definition : Human PFKM wild-type allele is located in the vicinity of 12q13.11 and is approximately 41 kb in length. This allele, which encodes 6-phosphofructokinase, muscle type protein, plays a role in muscle cell metabolism of glucose. Mutation of the gene is associated with glycogen storage disease type 7.;

GenBank Accession Number : M26066;

Details

Origin ID

C104790;

UMLS CUI

C3539630;

Automatic exact mappings (from CISMeF team)
- Glycogen storage disease VII [OMIM Phenotype]
- Phosphofructokinase, muscle type [OMIM gene]
- phosphofructokinase, muscle [ORDO Gene]
OMIM relation
- Phosphofructokinase, muscle type [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
- Fructose and Mannose Metabolism Pathway [NCIt concept]
- Galactose Metabolism Pathway [NCIt concept]
- Glycolysis/Gluconeogenesis Pathway [NCIt concept]
- Pentose Phosphate Cycle 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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