PYGL wt Allele

Preferred Label : PYGL wt Allele;

NCIt synonyms : Phosphorylase, Glycogen, Liver Gene; Glycogen Storage Disease Type VI Gene; Hers Disease Gene; Glycogen Phosphorylase, Liver Gene; GSD6; Phosphorylase, Glycogen; Liver Gene; Glycogen Phosphorylase L wt Allele;

NCIt definition : Human PYGL wild-type allele is located in the vicinity of 14q22.1 and is approximately 87 kb in length. This allele, which encodes glycogen phosphorylase, liver form protein, is involved in glycogen catabolism yielding glucose-1-phosphate. Mutation of the gene is associated with glycogen storage disease 6.;

NCI Metathesaurus CUI : CL1927407;

GenBank Accession Number : NM_002863;

Details

Origin ID

C204916;

OMIM relation
- Glycogen phosphorylase, liver [OMIM gene]
gene_found_in_organism
- Human [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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