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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
glycogen phosphorylase, muscle associated
Summary
- Gene Symbol
-
- PYGM
- Aliases
-
- GSD5
- McArdle syndrome
- glycogen phosphorylase, muscle form
- glycogen storage disease type V
- myophosphorylase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Allosteric enzyme
- Alternative splicing
- Disease variant
- Glycogen metabolism
- Glycogen storage disease
- Glycosyltransferase
- Nucleotide-binding
- Phosphoprotein
- Pyridoxal phosphate
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| P11217 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| glycogen metabolic process | ||
| glycogen catabolic process |
GO Hierarchy
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| linear malto-oligosaccharide phosphorylase activity | ||
| SHG alpha-glucan phosphorylase activity | ||
| pyridoxal phosphate binding | ||
| glycogen phosphorylase activity | ||
| protein binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110300 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1A | |
| DOID:0110301 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1B | |
| DOID:0110302 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1C | |
| DOID:0110303 | autosomal dominant limb-girdle muscular dystrophy type 1H | |
| DOID:0110304 | autosomal dominant limb-girdle muscular dystrophy type 2 | |
| DOID:0110305 | autosomal dominant limb-girdle muscular dystrophy type 1 | |
| DOID:0110306 | autosomal dominant limb-girdle muscular dystrophy type 3 | |
| DOID:0111040 | glycogen storage disease IXd | |
| DOID:0111041 | glycogen storage disease IXb | |
| DOID:0111042 | glycogen storage disease IXa |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001324 | Muscle weakness |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001649 | Tachycardia |
| HP:0001919 | Acute kidney injury |
| HP:0002015 | Dysphagia |
| HP:0002149 | Hyperuricemia |
| HP:0002875 | Exertional dyspnea |
| HP:0002913 | Myoglobinuria |
| HP:0003201 | Rhabdomyolysis |
| Disease ID | Disease Name |
|---|---|
| OMIM:232600 |
|
| ORPHA:368 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 178777 | WB:WBGene00020696 | ||
| 33386 | FB:FBgn0004507 | ||
| 393444 | ZFIN:ZDB-GENE-040426-1206 | DANRE40786 | |
| 553655 | ZFIN:ZDB-GENE-050522-482 | DANRE20648 | |
| 108267457 | ICTPU32662 | ||
| 108279009 | ICTPU11542 | ||
| 113585268 | ELEEL35348 | ||
| 113587684 | ELEEL39705 | ||
| 100194564 | SALSA116906 | ||
| 115154826 | SALTR102860 |
