| Primary Identifier | MGI:97830 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 19309 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables glycogen phosphorylase activity. Acts upstream of or within glycogen catabolic process. Predicted to be located in Z disc and sarcoplasmic reticulum. Predicted to be active in cytoplasm. Is expressed in several structures, including cerebral cortex; diaphragm; eye; heart and pericardium; and skeletal muscle. Used to study glycogen storage disease V. Human ortholog(s) of this gene implicated in glycogen storage disease V. Orthologous to human PYGM (glycogen phosphorylase, muscle associated). PHENOTYPE: Mice homozygous for a null mutation exhibit massive muscle glycogen accumulation, elevated creatine kinase levels in blood, and very poor exercise performance. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
