Mouse epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) ELISA Kit | EPM2A elisa kit
Mouse Laforin, EPM2A ELISA Kit
NCBI and Uniprot Product Information
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: Motility/polarity/chemotaxis; EC 3.1.3.48; EC 3.1.3.16; Protein phosphatase, dual-specificity
Cellular Component: polysome; endoplasmic reticulum; cytoplasm; nucleus; cytosol
Molecular Function: protein tyrosine/threonine phosphatase activity; inositol-1,3,4-trisphosphate 4-phosphatase activity; hydrolase activity; phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity; phosphoinositide 5-phosphatase activity; inositol-1,4,5,6-tetrakisphosphate 6-phosphatase activity; protein tyrosine phosphatase activity; protein serine/threonine phosphatase activity; inositol bisphosphate phosphatase activity; inositol-1,3,4,5,6-pentakisphosphate 3-phosphatase activity; JUN kinase phosphatase activity; transmembrane receptor protein phosphatase activity; protein binding; phosphatidylinositol-4-phosphate phosphatase activity; NADP phosphatase activity; 5-amino-6-(5-phosphoribitylamino)uracil phosphatase activity; protein tyrosine/serine/threonine phosphatase activity; phosphoric monoester hydrolase activity; carbohydrate phosphatase activity; inositol-4,5-bisphosphate 5-phosphatase activity; MAP kinase tyrosine/serine/threonine phosphatase activity; phosphohistidine phosphatase activity; carbohydrate binding; phosphoprotein phosphatase activity
Biological Process: glycogen metabolic process; nervous system development; habituation; dephosphorylation; inositol phosphate dephosphorylation; carbohydrate metabolic process; autophagy; protein amino acid dephosphorylation
Research Articles on EPM2A
Similar Products
Product Notes
The Mouse EPM2A epm2a (Catalog #AAA9319342) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9319342 ELISA Kit recognizes Mouse EPM2A. It is sometimes possible for the material contained within the vial of "epilepsy, progressive myoclonus type 2A, Lafora disease (laforin), ELISA Kit" 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
If you are ready to order, navigate to Shopping Cart and get ready to checkout.
