| Protein Name | epilepsy, progressive myoclonic epilepsy, type 2 gene alpha |
|---|---|
| Organism | Mus musculus |
| Gene ID | 13853 |
| Gene Symbol | Epm2a |
| UniProt | Q9WUA5 (EPM2A_MOUSE) |
| Relationships |
Total Number of functionally related compound(s) :
18
Total Number of Articles : 29 |
Description |
epilepsy, progressive myoclonic epilepsy, type 2 gene alpha |
| Gene Summary |
Enables several functions, including alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) 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 localization; 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 several structures, including brain. Used to study Lafora disease and lymphoma. Human ortholog(s) of this gene implicated in progressive myoclonus epilepsy. Orthologous to human EPM2A (EPM2A glucan phosphatase, laforin). [provided by Alliance of Genome Resources, Jun 2025] |
| synonyms |
|
| Properties | |