EPM2A, Monoclonal Antibody

Laforin isoform a,epilepsy; progressive myoclonus type 2A Lafora disease (laforin); epilepsy progressive myoclonus type 2 Lafora disease (laforin); LDE; LD

For Research Use Only. Not for use in diagnostic procedures.

Monoclonal

IgG1, k

k2A3

Mouse

By protein-G affinity chromatography

Liquid. In phosphate-buffered saline (pH 7.4) with 0.02% Sodium Azide, 10% glycerol.

1mg/ml (lot specific)

Can be stored at 4 degree C.
For long term storage, aliquot and store at -20 degree C.
Avoid repeated freezing and thawing cycles.

Small volumes of anti-EPM2A antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Epilepsy, progressive myoclonus type 2A (EPM2A), also known as laforin, is a dual-specificity phosphatase that associates with polyribosomes. The protein may be involved in the control of glycogen metabolism, particularly in monitoring for and preventing the formation of poorly branched glycogen molecules. 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.

Enzymes & Proteases

ELISA (EIA), Western Blot (WB), Flow Cytometry (FC/FACS), Immunocytochemistry (ICC), Immunofluorescence (IF)

WB: 1:1,000 ~ 2,000.
Recommended starting dilution is 1:1,000.

Cell lysates of HeLa and 293T (20ug) were resolved by SDS-PAGE, transferred to NC membrane and probed with anti-human EPM2A (1:1000). Proteins were visualized using a goat anti-mouse secondary antibody conjugated to HRP and an ECL detection system.

ICC/IF analysis of EPM2A in HeLa cells line, stained with DAPI (Blue) for nucleus staining and monoclonal anti-human EPM2A antibody (1:100) with goat anti-mouse IgG-Alexa fluor 488 conjugate (Green).

35,169 Da

EPM2A, laforin glucan phosphatase

laforin

Laforin

LAFPTPase  [Similar Products]

This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, *****-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]

Plays an important role in preventing glycogen hyperphosphorylation and the formation of insoluble aggregates, via its activity as glycogen phosphatase, and by promoting the ubiquitination of proteins involved in glycogen metabolism via its interaction with the E3 ubiquitin ligase NHLRC1/malin. Shows strong phosphatase activity towards complex carbohydrates in vitro, avoiding glycogen hyperphosphorylation which is associated with reduced branching and formation of insoluble aggregates (PubMed:16901901, PubMed:23922729, PubMed:26231210, PubMed:25538239, PubMed:25544560). Dephosphorylates phosphotyrosine and synthetic substrates, such as para-nitrophenylphosphate (pNPP), and has low activity with phosphoserine and phosphothreonine substrates (in vitro) (PubMed:11001928, PubMed:11220751, PubMed:11739371, PubMed:14532330, PubMed:16971387, PubMed:18617530, PubMed:22036712, PubMed:23922729, PubMed:14722920). Has been shown to dephosphorylate MAPT (). Forms a complex with NHLRC1/malin and HSP70, which suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Acts as a scaffold protein to facilitate PPP1R3C/PTG ubiquitination by NHLRC1/malin (PubMed:23922729). Also promotes proteasome-independent protein degradation through the macroautophagy pathway (PubMed:20453062).

Tagliabracci V.S., et al. (2007) Proc Natl Acad Sci U S A. 104 (49):19262-19266; Wang W., et al. (2006) Biochem Biophys Res Cimmun. 350 (3):588-592; Ganesh S., et al. (2002) Hum Mol Genet. 11:1263-1271

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