| Primary Identifier | MGI:97829 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 110095 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables glycogen phosphorylase activity. Involved in glycogen catabolic process. Acts upstream of or within necroptotic process and response to bacterium. Predicted to be located in cytosol. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; cranium; sensory organ; and urinary system. Used to study glycogen storage disease VI. Human ortholog(s) of this gene implicated in glycogen storage disease; glycogen storage disease VI; and lactic acidosis. Orthologous to human PYGL (glycogen phosphorylase L). PHENOTYPE: Mice homozygous for a null allele exhibit hepatomegaly, hepatic glycogen accumulation, ketotic hypoglycemia, activated hepatic stellate cells, inflammatory infiltrates in hepatic vessels, elevated serum transaminases and model glycogen storage disease. [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
