Mouse Epilepsy, Progressive Myoclonus Type 2A Monoclonal Antibody | anti-EPM2A antibody

Epilepsy, Progressive Myoclonus Type 2A (Lafora Disease, EPM2A, Laforin, LD, LDE, EPM2, MELF, LAFPTPase, FLJ11207, KIAA0766)

Cat. Num. AAA601925

• Gene Names: EPM2A; EPM2; MELF
• Applications: Western Blot
• Purity: Affinity Purified; Purified by Protein G affinity chromatography.
• Synonyms: Epilepsy; Progressive Myoclonus Type 2A; Monoclonal Antibody; Progressive Myoclonus Type 2A (Lafora Disease; EPM2A; Laforin; LD; LDE; EPM2; MELF; LAFPTPase; FLJ11207; KIAA0766); Anti -Epilepsy; anti-EPM2A antibody

• Host: Mouse
• Clonality: Monoclonal
• Isotype: IgG1
• Clone Number: 8C130
• Specificity: Recognizes human Epilepsy, Progressive Myoclonus Type 2A, Lafora Disease.
• Purity/Purification: Affinity Purified; Purified by Protein G affinity chromatography.
• Form/Format: Supplied as a sterile-filtered liquid in PBS, pH 7.4, 1% BSA, 0.05% sodium azide.

• Applicable Applications for anti-EPM2A antibody: Western Blot (WB)
• Application Notes: Suitable for use in Western Blotting.; Dilution: Western Blotting: 1:1000-1:2000
• Immunogen: Partial sequence of recombinant full-length protein to human Epilepsy, Progressive Myoclonus Type 2A, Lafora Disease
• Preparation and Storage: May be stored at 4 degree C for short-term only. For long-term storage and to avoid repeated freezing and thawing, add sterile 40-50% glycerol, aliquot and store at -20 degree C. Aliquots are stable for at least 12 months at -20 degree C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.

Testing Data

Product Categories/Family for anti-EPM2A antibody

Antibodies; Abs to Disease Markers

NCBI and Uniprot Product Information

• NCBI GI #: 47682971
• NCBI GeneID: 7957
• UniProt Accession #: O95278; O95483; Q5T3F5; Q8IU96; Q8IX24; Q8IX25; Q9BS66; Q9UEN2; Q6IS15
• Molecular Weight: 37,158 Da
• NCBI Official Full Name: Epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
• NCBI Official Synonym Full Names: epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
• NCBI Official Symbol: EPM2A
• NCBI Official Synonym Symbols: EPM2; MELF
• NCBI Protein Information: laforin; LAFPTPase; lafora PTPase; OTTHUMP00000017360; OTTHUMP00000017361; epilepsy, progressive myoclonus type 2, Lafora disease (laforin)
• UniProt Protein Name: Laforin
• Protein Family: Laforin
• UniProt Gene Name: EPM2A
• UniProt Entry Name: EPM2A_HUMAN

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]

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: EC 3.1.3.16; Motility/polarity/chemotaxis; EC 3.1.3.48; Protein phosphatase, dual-specificity

Chromosomal Location of Human Ortholog: 6q24

Cellular Component: polysome; endoplasmic reticulum; cytoplasm; plasma membrane; cytosol; nucleus

Molecular Function: protein binding; protein tyrosine/serine/threonine phosphatase activity; phosphoinositide 5-phosphatase activity; carbohydrate phosphatase activity; protein tyrosine phosphatase activity; protein serine/threonine phosphatase activity

Biological Process: glycogen metabolic process; nervous system development; habituation; glycogen biosynthetic process; inositol phosphate dephosphorylation; carbohydrate metabolic process; glucose metabolic process; autophagy; pathogenesis; protein amino acid dephosphorylation

Disease: Myoclonic Epilepsy Of Lafora