PYGM Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | PYGM |
| Official Name | glycogen phosphorylase, muscle associated [Source:HGNC Symbol;Acc:HGNC:9726] |
| Ensembl ID | ENSG00000068976 |
| Bio databases IDs | |
| Aliases | glycogen phosphorylase, muscle associated, McArdle syndrome, glycogen storage disease type V, glycogen phosphorylase, muscle form, myophosphorylase |
| Synonyms | glycogen phosphorylase, muscle associated, GP, GSD5, M-GP, Muscle glycogen phosphorylase, Muscpho, myophosphorylase, PG, PHOS A |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PYGM often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glycosyltransferase family 1 and related proteins with GTB topology
- pyridoxal phosphate binding
- AMP binding
- Carbohydrate phosphorylase
- glycogen/starch/alpha-glucan phosphorylases
- enzyme
- protein binding
- carbohydrate binding
- phosphorylase
- glycogen phosphorylase
Pathways
Biological processes and signaling networks where the PYGM gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- glycogen storage disease V
- androgenic alopecia
- glycogen storage disease
- rhabdomyolysis
role in cell
- proliferation
- homeostasis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- sarcoplasmic reticulum
- cytosol
- Z line
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PYGM gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycogen metabolic process
- glycogen catabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- nucleotide binding
- glycogen phosphorylase activity
- pyridoxal phosphate binding
- protein binding