EPM2A blocking peptide
EPM2A Peptide
NCBI and Uniprot Product Information
NCBI Description
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 Description
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: Protein phosphatase, dual-specificity; EC 3.1.3.48; 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; protein tyrosine/serine/threonine phosphatase activity; phosphoinositide 5-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; glucose metabolic process; autophagy; pathogenesis; protein amino acid dephosphorylation
Disease: Myoclonic Epilepsy Of Lafora
Research Articles on EPM2A
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Product Notes
The EPM2A epm2a (Catalog #AAA152586) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. AAA Biotech's EPM2A can be used in a range of immunoassay formats including, but not limited to, Blocking (BL). EPM2A peptide is used for blocking the activity of EPM2A antibody. Researchers should empirically determine the suitability of the EPM2A epm2a for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "EPM2A, Blocking Peptide" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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