protein

Recombinant Human Laforin (EPM2A)

MBS1085145

0.5 mg (E-Coli)

1090 USD

Recombinant Protein

Recombinant Human Laforin (EPM2A)

Laforin (EPM2A)

Laforin; EC=3.1.3.16; EC=3.1.3.48; Lafora PTPase; LAFPTPase

laforin isoform b; Laforin; laforin; LAFPTPase; lafora PTPase; glucan phosphatase; epilepsy, progressive myoclonus type 2, Lafora disease (laforin); epilepsy, progressive myoclonus type 2A, Lafora disease (laforin); Glucan phosphatase; Lafora PTPase; LAFPTPase

EPM2A

EPM2A; EPM2A; EPM2; MELF; LAFPTPase

EPM2A_HUMAN

E Coli or Yeast or Baculovirus or Mammalian Cell

1-331

331

MRFRFGVVVP PAVAGARPEL LVVGSRPELG RWEPRGAVRL RPAGTAAGDG ALALQEPGLW LGEVELAAEE AAQDGAEPGR VDTFWYKFLK REPGGELSWE GNGPHHDRCC TYNENNLVDG VYCLPIGHWI EATGHTNEMK HTTDFYFNIA GHQAMHYSRI LPNIWLGSCP RQVEHVTIKL KHELGITAVM NFQTEWDIVQ NSSGCNRYPE PMTPDTMIKL YREEGLAYIW MPTPDMSTEG RVQMLPQAVC LLHALLEKGH IVYVHCNAGV GRSTAAVCGW LQYVMGWNLR KVQYFLMAKR PAVYIDEEAL ARAQEDFFQK FGKVRSSVCS L

>90%

Liquid containing glycerol; lyophilization may be available upon request.

Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.

Species: Homo sapiens (Human)

Has both dual-specificity protein phosphatase and glucan phosphatase activities. Together with the E3 ubiquitin ligase NHLRC1/malin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. Dephosphorylates phosphotyrosine, phosphoserine and phosphothreonine substrates in vitro. Has also been shown to dephosphorylate MAPT. Shows strong phosphatase activity towards complex carbohydrates in vitro, avoiding glycogen hyperphosphorylation which is associated with reduced branching and formation of insoluble aggregates. Forms a complex with NHLRC1/malin and HSP70, which suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Acts as a scaffold protein to facilitate PPP1R3C/PTG ubiquitination by NHLRC1/malin. Also promotes proteasome-independent protein degradation through the macroautophagy pathway.

66346728

NP_001018051.1

NM_001018041.1

O95278

51kD

Disease Pathway (530764); Glucose Metabolism Pathway (106199); Glycogen Storage Diseases Pathway (980468); Glycogen Synthesis Pathway (905990); Metabolism Pathway (477135); Metabolism Of Carbohydrates Pathway (106196); Myoclonic Epilepsy Of Lafora Pathway (980469)

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]

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 3.1.3.48; Protein phosphatase, dual-specificity; EC 3.1.3.16; Motility/polarity/chemotaxis. Chromosomal Location of Human Ortholog: 6q24. Cellular Component: polysome; endoplasmic reticulum; cytoplasm; plasma membrane; nucleus; cytosol. Molecular Function: protein binding; phosphoinositide 5-phosphatase activity; protein tyrosine/serine/threonine phosphatase activity; protein tyrosine phosphatase activity; carbohydrate phosphatase activity; protein serine/threonine phosphatase activity. Biological Process: glycogen metabolic process; nervous system development; glycogen biosynthetic process; habituation; inositol phosphate dephosphorylation; carbohydrate metabolic process; autophagy; glucose metabolic process; pathogenesis; protein amino acid dephosphorylation. Disease: Myoclonic Epilepsy Of Lafora

0.5 mg (E-Coli)

1090 USD

0.05 mg (Baculovirus)

1090

0.5 mg (Yeast)

1320

0.05 mg (Mammalian-Cell)

1320

1 mg (E-Coli)

1720