靶标:
EPM2A
产品别名:
EPM2; MELF; EPM2A; EPM2A glucan phosphatase, laforin; EPM2A glucan phosphatase, laforin; laforin; EPM2A, laforin glucan phosphatase; LAFPTPase; epilepsy, progressive myoclonus type 2, Lafora disease (laforin); epilepsy, progressive myoclonus type 2A, Lafora disease (laforin); glucan phosphatase; glycogen phosphatase; lafora PTPase;
背景信息:
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],