PGAM2 wt Allele

Preferred Label : PGAM2 wt Allele;

NCIt synonyms : GSD10; Phosphoglycerate Mutase 2 wt Allele; PGAM-M; Phosphoglycerate Mutase 2 (Muscle) Gene; Phosphoglycerate Mutase, Muscle Gene; PGAMM;

NCIt definition : Human PGAM2 wild-type allele is located in the vicinity of 7p13 and is approximately 3 kb in length. This allele, which encodes phosphoglycerate mutase 2 protein, plays a role in the reversible conversion of 3-phosphoglycerate to 2-phosphoglycerate. Mutation of the gene is associated with glycogen storage disease X.;

NCI Metathesaurus CUI : CL1926556;

GenBank Accession Number : NM_000290;

Details

Origin ID

C204473;

UMLS CUI

C5890974;

OMIM relation
- Phosphoglycerate mutase 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7p13 [NCIt concept]
gene_is_element_in_pathway
- Glycine, Serine and Threonine Metabolism Pathway [NCIt concept]
- Glycolysis Pathway [NCIt concept]
- Glycolysis/Gluconeogenesis Pathway [NCIt concept]
gene_plays_role_in_process
- Gluconeogenic Process [NCIt concept]
- Glycolysis [NCIt concept]
- Muscle Contraction [NCIt concept]

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