O95278.2
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
35,169 Da
NCBI Official Full Name
Laforin
NCBI Official Synonym Full Names
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
NCBI Official Synonym Symbols
NCBI Protein Information
laforin
UniProt Protein Name
Laforin
UniProt Synonym Protein Names
Glucan phosphatase; Lafora PTPase; LAFPTPase
UniProt Synonym Gene Names
UniProt Entry Name
EPM2A_HUMAN
NCBI Summary for EPM2A
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]
UniProt Comments for EPM2A
laforin: 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). Acts as a scaffold protein to facilitate PPP1R3C/PTG ubiquitination by NHLRC1/malin. Forms a complex with NHLRC1/malin and HSP70 and this complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Isoform 2, an inactive phosphatase, could function as a dominant-negative regulator for the phosphatase activity of isoform 1. Defects in EPM2A are a cause of progressive myoclonic epilepsy type 2 (EPM2); 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. Belongs to the protein-tyrosine phosphatase family. 9 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 3.1.3.16; EC 3.1.3.48; Motility/polarity/chemotaxis; Protein phosphatase, dual-specificity
Chromosomal Location of Human Ortholog: 6q24
Biological Process: negative regulation of TOR signaling pathway; positive regulation of macroautophagy
Disease: Myoclonic Epilepsy Of Lafora
Research Articles on EPM2A
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Products associated with EPM2A blocking peptide
Pathways associated with EPM2A blocking peptide
Diseases associated with EPM2A blocking peptide
Organs/Tissues associated with EPM2A blocking peptide
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