Gene: EPM2A

Alternate names for this Gene: EPM2|MELF

Gene Summary: This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen.

Gene is located in Chromosome: 6

Location in Chromosome : 6q24.3

Description of this Gene: EPM2A glucan phosphatase, laforin

Type of Gene: protein-coding

rs1554263366 in EPM2A gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.

rs104893950 in EPM2A gene and Lafora Disease PMID 12019207 2002 Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

PMID 11175283 2000 In spite of this remarkable allelic heterogeneity, the R241stop EPM2A mutation was found in approximately 40% of the Lafora disease patients.

PMID 9931343 1999 A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).

PMID 14706656 2004 The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.

PMID 11739371 2002 A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen.

PMID 15009235 2004 A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit.

PMID 26231210 2015 Mechanistic Insights into Glucan Phosphatase Activity against Polyglucan Substrates.

PMID 25544560 2015 Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.

PMID 9771710 1998 Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.

PMID 14722920 2004 Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.

PMID 18311786 2008 Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin.

PMID 11001928 2000 Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes.

PMID 12560877 2003 Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy.

PMID 14532330 2003 Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.

PMID 11175283 2000 Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.

rs104893950 in EPM2A gene and Myoclonic Epilepsies, Progressive PMID 9771710 1998 Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.

PMID 25246353 2014 Late onset Lafora disease and novel EPM2A mutations: breaking paradigms.

PMID 21623095 2011 Lafora disease: a case report, pathologic and genetic study.

PMID 14722920 2004 Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.

rs1396644 in EPM2A gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs80133860 in EPM2A gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.