PYGM wt Allele

Preferred Label : PYGM wt Allele;

NCIt synonyms : Glycogen Storage Disease Type V Gene; Phosphorylase, Glycogen; Muscle Gene; Glycogen Phosphorylase, Muscle Gene; McArdle Syndrome Gene; GSD5; Phosphorylase, Glycogen, Muscle Gene; Glycogen Phosphorylase, Muscle Associated wt Allele;

NCIt definition : Human PYGM wild-type allele is located in the vicinity of 11q13.1 and is approximately 14 kb in length. This allele, which encodes glycogen phosphorylase, muscle form protein, plays a role in the catabolism of glycogen. Mutations in the gene are associated with glycogen storage disease 5 (McArdle syndrome).;

NCI Metathesaurus CUI : CL1927375;

GenBank Accession Number : NM_005609;

Details

Origin ID

C204919;

OMIM relation
- Glycogen phosphorylase, muscle [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q13.1 [NCIt concept]
gene_is_element_in_pathway
- Insulin/Insulin Receptor Signaling Pathway [NCIt concept]
- Starch and Sucrose Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Catabolic Process [NCIt concept]
- Glycogenolysis Induction [NCIt concept]
- Glycosylation [NCIt concept]
- Homeostatic Process [NCIt concept]
- Phosphorylation Process [NCIt concept]

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