PYGM
Summary: This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| glycogen phosphorylase, muscle associated | MIM:608455 | Ensembl:ENSG00000068976 | HGNC:HGNC:9726 | PA34069 | 11q13.1 |
Gene Categories:
DRUGGABLE GENOMEGO terms in PYGM
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0005977 | glycogen metabolic process |
| BP | IBA | GO:0005980 | glycogen catabolic process |
| BP | TAS | GO:0005980 | glycogen catabolic process |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
| CC | HDA | GO:0070062 | extracellular exosome |
| MF | IEA | GO:0000166 | nucleotide binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0008184 | glycogen phosphorylase activity |
| MF | IBA | GO:0030170 | pyridoxal phosphate binding |
| MF | IEA | GO:0102250 | linear malto-oligosaccharide phosphorylase activity |
| MF | IEA | GO:0102499 | SHG alpha-glucan phosphorylase activity |
Gene expression in normal tissue: PYGM
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PYGM
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-70221 | Glycogen breakdown (glycogenolysis) |
| reactome | R-HSA-70221 | Glycogen breakdown (glycogenolysis) |
| reactome | R-HSA-71387 | Metabolism of carbohydrates |
| reactome | R-HSA-71387 | Metabolism of carbohydrates |
| reactome | R-HSA-8982491 | Glycogen metabolism |
| reactome | R-HSA-8982491 | Glycogen metabolism |
| wikipathways | WP500 | Glycogen Metabolism |
| humancyc | PWY-5941 | glycogenolysis |
| kegg | hsa00500 | Starch and sucrose metabolism - Homo sapiens (human) |
| kegg | hsa04217 | Necroptosis - Homo sapiens (human) |
| kegg | hsa04910 | Insulin signaling pathway - Homo sapiens (human) |
| kegg | hsa04922 | Glucagon signaling pathway - Homo sapiens (human) |
| kegg | hsa04931 | Insulin resistance - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PYGM
CLASSFICATION
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