Mouse monoclonal antibody Anti-Human EPM2A | MyBioSource MBS120271 product information

This webpage contains legacy information. The product is either no longer available from the supplier or has been delisted at Labome.

product summary

company name :

MyBioSource

product type :

antibody

product name :

Mouse monoclonal antibody Anti-Human EPM2A

catalog :

MBS120271

quantity :

0.1 mg

price :

345 USD

clonality :

monoclonal

host :

mouse

conjugate :

nonconjugated

clone name :

2323C3a

reactivity :

human

application :

immunocytochemistry

product information

catalog number :

MBS120271

products type :

Antibody

products full name :

Mouse monoclonal antibody Anti-Human EPM2A

products short name :

EPM2A

products name syn :

Homo sapiens epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (EPM2A), transcript variant 1; EPM2; MELF

other names :

Homo sapiens epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (EPM2A), transcript variant 1, mRNA; Laforin; laforin; EPM2A; LAFPTPase; epilepsy, progressive myoclonus type 2, Lafora disease (laforin); glucan phosphatase; lafora PTPase; epilepsy, progressive myoclonus type 2A, Lafora disease (laforin); Glucan phosphatase; Lafora PTPase; LAFPTPase

products gene name :

EPM2A

other gene names :

EPM2A; EPM2A; EPM2; MELF

uniprot entry name :

EPM2A_HUMAN

clonality :

Monoclonal

isotype :

IgG1

clone :

2323C3a

host :

Mouse

reactivity :

Human

sequence length :

3474

concentration :

100 ug/ml (1.0 ml)

tested application :

Dot Blot (DB), Immunocytochemistry (ICC)

other info1 :

Preparation: This antibody was purified using protein G column chromatography from culture supernatant of hybridoma cultured in a medium containing bovine IgG-depleted (approximately 95%) fetal bovine serum.

other info2 :

Sterility: Filtered through a 0.22 um membrane.

products 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. [NCBI Entrez Gene Summary]

ncbi gi num :

66346726

ncbi acc num :

NP_005661.1

ncbi gb acc num :

NM_005670

ncbi mol weight :

35,169 Da

ncbi pathways :

Disease Pathway (530764); Glucose Metabolism Pathway (106199); Glycogen Storage Diseases Pathway (1127581); Glycogen Synthesis Pathway (905990); Metabolism Pathway (477135); Metabolism Of Carbohydrates Pathway (106196); Myoclonic Epilepsy Of Lafora Pathway (1127582)

ncbi summary :

uniprot summary :

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; Motility/polarity/chemotaxis; EC 3.1.3.16. Chromosomal Location of Human Ortholog: 6q24. Cellular Component: polysome; endoplasmic reticulum; cytoplasm; plasma membrane; cytosol; nucleus. Molecular Function: protein binding; phosphoinositide 5-phosphatase activity; protein tyrosine/serine/threonine 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; autophagy; glucose metabolic process; pathogenesis; protein amino acid dephosphorylation. Disease: Myoclonic Epilepsy Of Lafora

size1 :

0.1 mg

price1 :

345 USD