| Primary Identifier | MGI:1341085 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 13853 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables identical protein binding activity; phosphatase activity; and starch binding activity. Involved in carbohydrate phosphorylation and glycogen biosynthetic process. Acts upstream of or within several processes, including habituation; regulation of protein import into nucleus; and regulation of protein metabolic process. Located in several cellular components, including cytoplasmic side of endoplasmic reticulum membrane; dendrite; and perikaryon. Is active in cytosol. Is expressed in brain. Used to study Lafora disease. Human ortholog(s) of this gene implicated in Lafora disease 1 and progressive myoclonus epilepsy. Orthologous to human EPM2A (EPM2A glucan phosphatase, laforin). PHENOTYPE: Mice homozygous for a targeted null mutation exhibit behavioral deficits, ataxia, myoclonus epilepsy, and widespread degeneration of neurons in the presence of only a few small Lafora inclusions, providing a putative mouse model of human Lafora 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
