antibody

Goat anti-Laforin (isoform a) Antibody

MBS421876

0.1 mg

300 USD

polyclonal

goat

nonconjugated

human, mouse, rat, dog, cow

western blot, immunohistochemistry, enzyme immunoassay

Antibody

Goat anti-Laforin (isoform a) Antibody

Laforin

Goat Anti-Laforin (isoform a), Biotinylated Antibody; epilepsy, progressive myoclonus type 2, Lafora disease (laforin); laforin; EPM2A; epilepsy, progressive myoclonus type 2A, Lafora disease (laforin); EPM2; MELF; epilepsy; progressive myoclonus type 2; Lafora disease (laforin) antibody; laforin antibody; EPM2A antibody; epilepsy; progressive myoclonus type 2A; Lafora disease (laforin) antibody; EPM2 antibody; MELF antibody; Laforin; Laforin (isoform a)

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

EPM2A

EPM2A; EPM2A; EPM2; MELF; LAFPTPase

EPM2A_HUMAN

Polyclonal

Goat

Tested: Human; Expected from sequence similarity: Human, Mouse, Rat, Dog, Cow

331

EATGHTNEMKHTTD

Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide

Supplied at 0.5 mg/ml in Tris saline, 0. 02% sodium azide, pH7.3 with 0.5% bovine serum albumin.

100ug specific antibody in 200ul

Aliquot and store at -20 degree C. Minimize freezing and thawing.

Peptide ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)

Peptide ELISA: Antibody detection limit dilution 1: 16000. Immunohistochemistry: In paraffin embedded Human Cerebellum shows pixulate staining in the cells of the granular layer. Recommended concentration, 2.5-3.8ug/ml. Western Blot: Approx.38kDa band observed in Human Brain (Cerebellum), Mouse Brain and Rat Brain lysates (calculated MW of 37.2kDa according to NP_005661.1). Recommended concentration: 0.1-0.3ug/ml.

Immunogen: Peptide with sequence C-EATGHTNEMKHTTD, from the internal region of the protein sequence according to NP_005661.1. Epitope: Internal region

Note: This antibody is expected to recognize isoform a (NP_005661.1) only.

11321613

NP_005661.1

NM_005670.3

35,169 Da

Disease Pathway (1268854); Diseases Of Carbohydrate Metabolism Pathway (1268940); Diseases Of Metabolism Pathway (1268939); Glucose Metabolism Pathway (1269959); Glycogen Storage Diseases Pathway (1268953); Glycogen Synthesis Pathway (1269962); Metabolism Pathway (1269956); Metabolism Of Carbohydrates Pathway (1269957); Myoclonic Epilepsy Of Lafora Pathway (1268954)

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

0.1 mg

300 USD