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Laforin (LDE)

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EPM2A; LD; LAFPTPase; Epilepsy,Progressive Myoclonus Type 2A,Lafora Disease; Glucan phosphatase; Lafora PTPase

Laforin (LDE)
CCC L662
HGNC 3413
MGI 1341085
PubMed 20453062
RGD 71047
UniProt O95278
Wiki Laforin
Laforin contains a dual specificity phosphatase domain (DSP) and a carbohydrate binding module subtype 20 Its physiological substrate has yet to be identified and the molecular mechanisms in which mutated laforin causes Lafora disease is unknown.Biochemical, immunofluorescence, and ultrastructural studies on transfected HeLa cells revealed that laforin is a cytoplasmic protein associated with polyribosomes. Expression of 2 proteins with missense mutations seen in EPM2A patients resulted in ubiquitin-positive perinuclear aggregates, suggesting that these were misfolded proteins targeted for degradation. laforin is involved in translational regulation and that protein misfolding may be one of the molecular bases of the Lafora disease phenotype caused by missense mutations in the EPM2A gene.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Laforin (LDE) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Laforin (LDE) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Laforin (LDE) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Laforin (LDE) CLIA Kit Customized Service Offer
n/a ELISA Kit for Laforin (LDE) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Laforin (LDE) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Laforin (LDE) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Laforin (LDE) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Laforin (LDE) CLIA Kit Customized Service Offer
n/a ELISA Kit for Laforin (LDE) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Laforin (LDE) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Laforin (LDE) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Laforin (LDE) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Laforin (LDE) CLIA Kit Customized Service Offer
n/a ELISA Kit for Laforin (LDE) ELISA Kit Customized Service Offer
  1. "Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy."Nat. Genet. 20:171-174(1998) [PubMed] [Europe PMC] [Abstract]
  2. "Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes."Hum. Mol. Genet. 9:2251-2261(2000) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and analysis of human chromosome 6." Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)."Hum. Mol. Genet. 8:345-352(1999) [PubMed] [Europe PMC] [Abstract]
  7. "Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase."Ann. Neurol. 49:271-275(2001) [PubMed] [Europe PMC] [Abstract]
  8. "Alternative splicing modulates subcellular localization of laforin."Biochem. Biophys. Res. Commun. 291:1134-1137(2002) [PubMed] [Europe PMC] [Abstract]
  9. "A unique carbohydrate binding domain targets the Lafora disease phosphatase to glycogen."J. Biol. Chem. 277:2377-2380(2002) [PubMed] [Europe PMC] [Abstract]
  10. "Identification of a novel protein interacting with laforin, the EPM2A progressive myoclonus epilepsy gene product."Genomics 81:579-587(2003) [PubMed] [Europe PMC] [Abstract]
  11. "The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain."Hum. Mol. Genet. 12:2359-2368(2003) [PubMed] [Europe PMC] [Abstract]
  12. "Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation."Hum. Mol. Genet. 12:3161-3171(2003) [PubMed] [Europe PMC] [Abstract]
  13. "The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies."Biochem. Biophys. Res. Commun. 313:1101-1109(2004) [PubMed] [Europe PMC] [Abstract]
  14. "Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin."Proc. Natl. Acad. Sci. U.S.A. 102:8501-8506(2005) [PubMed] [Europe PMC] [Abstract]
  15. "Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates."J. Biol. Chem. 281:30412-30418(2006) [PubMed] [Europe PMC] [Abstract]
  16. "A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease."Genes Dev. 21:2399-2409(2007) [PubMed] [Europe PMC] [Abstract]
  17. "Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy."Hum. Mol. Genet. 17:3010-3020(2008) [PubMed] [Europe PMC] [Abstract]
  18. "Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG)."J. Biol. Chem. 283:4069-4076(2008) [PubMed] [Europe PMC] [Abstract]
  19. "The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system."Hum. Mol. Genet. 18:688-700(2009) [PubMed] [Europe PMC] [Abstract]
  20. "Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease."J. Biol. Chem. 284:22657-22663(2009) [PubMed] [Europe PMC] [Abstract]
  21. "Laforin, the most common protein mutated in Lafora disease, regulates autophagy."Hum. Mol. Genet. 19:2867-2876(2010) [PubMed] [Europe PMC] [Abstract]
  22. "Laforin, a dual-specificity phosphatase involved in Lafora disease, is phosphorylated at Ser25 by AMP-activated protein kinase."Biochem. J. 439:265-275(2011) [PubMed] [Europe PMC] [Abstract]
  23. "Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy."Genomics 99:36-43(2012) [PubMed] [Europe PMC] [Abstract]
  24. "Glycogenic activity of R6, a protein phosphatase 1 regulatory subunit, is modulated by the laforin-malin complex."Int. J. Biochem. Cell Biol. 45:1479-1488(2013) [PubMed] [Europe PMC] [Abstract]
  25. "Dimerization of the glucan phosphatase laforin requires the participation of cysteine 329."PLoS ONE 8:E69523-E69523(2013) [PubMed] [Europe PMC] [Abstract]
  26. "Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions."Eur. J. Hum. Genet. 8:946-954(2000) [PubMed] [Europe PMC] [Abstract]
  27. "Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene."Mol. Cell. Probes 15:281-289(2001) [PubMed] [Europe PMC] [Abstract]
  28. "Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype."Hum. Mol. Genet. 11:1263-1271(2002) [PubMed] [Europe PMC] [Abstract]
  29. "Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy."J. Hum. Genet. 48:51-54(2003) [PubMed] [Europe PMC] [Abstract]
  30. "A novel exon 1 mutation in a patient with atypical Lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit."Epilepsia 45:294-295(2004) [PubMed] [Europe PMC] [Abstract]
  31. "Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy."Hum. Mutat. 23:170-176(2004) [PubMed] [Europe PMC] [Abstract]
  32. "Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population."J. Hum. Genet. 50:347-352(2005) [PubMed] [Europe PMC] [Abstract]
  33. "Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin."Hum. Mutat. 29:E1-12(2008) [PubMed] [Europe PMC] [Abstract]