Aliases for EPM2A Gene
External Ids for EPM2A Gene
Previous GeneCards Identifiers for EPM2A Gene
This gene encodes a dual-specificity phosphatase that associates with polyribosomes. The encoded protein may be involved in the regulation of glycogen metabolism. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
GeneCards Summary for EPM2A Gene
EPM2A (Epilepsy, Progressive Myoclonus Type 2A, Lafora Disease (Laforin)) is a Protein Coding gene. Diseases associated with EPM2A include epilepsy, progressive myoclonic 2b and progressive myoclonus epilepsy, lafora type. Among its related pathways are Metabolism and MPS VI - Maroteaux-Lamy syndrome. GO annotations related to this gene include protein tyrosine phosphatase activity and protein tyrosine/serine/threonine phosphatase activity.
UniProtKB/Swiss-Prot for EPM2A Gene
Has both dual-specificity protein phosphatase and glucan phosphatase activities. Together with the E3 ubiquitin ligase NHLRC1/malin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. Dephosphorylates phosphotyrosine, phosphoserine and phosphothreonine substrates in vitro. Has also been shown to dephosphorylate MAPT. Shows strong phosphatase activity towards complex carbohydrates in vitro, avoiding glycogen hyperphosphorylation which is associated with reduced branching and formation of insoluble aggregates. Forms a complex with NHLRC1/malin and HSP70, which suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Acts as a scaffold protein to facilitate PPP1R3C/PTG ubiquitination by NHLRC1/malin. Also promotes proteasome-independent protein degradation through the macroautophagy pathway. Isoform 2, an inactive phosphatase, could function as a dominant-negative regulator for the phosphatase activity of isoform 1.