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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:608455 Ensembl IDEnsembl:ENSG00000068976 HGNC IDHGNC:HGNC:9726 PHARMGKB IDPA34069 Map Location11q13.1 | |||||
Gene Categories:
DRUGGABLE GENOMEGO terms in PYGM
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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 |
Gene expression in normal tissue: PYGM
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PYGM
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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 |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD12 | Bicalutamide | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PYGM
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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