背景介绍
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],
功能
catalytic activity:A phosphoprotein + H(2)O = a protein + phosphate.,catalytic activity:Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.,disease:Defects in EPM2A are a cause of progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]; also known as Lafora disease. EPM2 is an autosomal recessive and severe form of adolescent-onset progressive epilepsy. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. EPM2 occurs worldwide, but it is particularly common in the mediterranean countries of southern Europe and northern Africa, in southern India and in the Middle East. At the cellular level, it is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle. Among other conditions involving polyglucosans, EPM2 is unique in that the inclusions are in neuronal dendrites but not axons and the forming polyglucosan fibrils are associated with the endoplasmic reticulum.,function:Dual specificity protein phosphatase. May be involved in the control of glycogen metabolism, particularly in monitoring for and preventing the formation of poorly branched glycogen molecules (polyglucosans).,similarity:Belongs to the protein-tyrosine phosphatase family.,similarity:Contains 1 CBM20 (carbohydrate binding type-20) domain.,similarity:Contains 1 tyrosine-protein phosphatase domain.,subcellular location:Also found in the nucleus.,subcellular location:Primarily associated with polyribosomes at the endoplasmic reticulum, also found at the plasma membrane.,subunit:Interacts with itself. Interacts also with PPP1R5, HIRIP5 and EPM2AIP1. Binds glycogen and Lafora bodies.,tissue specificity:Expressed in heart, skeletal muscle, kidney, pancreas and brain.,
