Rabbit anti-Human EPM2A Polyclonal Antibody | anti-EPM2A antibody

EPM2A, CT (Laforin, Lafora PTPase, LAFPTPase) (FITC)

Cat. Num. AAA6474644

• Gene Names: EPM2A; EPM2; MELF
• Reactivity: Human
• Applications: Immunohistochemistry, Western Blot
• Purity: Purified by Ammonium Sulfate Precipitation.
• Synonyms: EPM2A; Polyclonal Antibody; CT (Laforin; Lafora PTPase; LAFPTPase) (FITC); anti-EPM2A antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human EPM2A.
• Purity/Purification: Purified by Ammonium Sulfate Precipitation.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Fluorescein Isothiocyanate (FITC).

• Applicable Applications for anti-EPM2A antibody: Immunohistochemistry (IHC), FLISA, Western Blot (WB)
• Application Notes: IHC: 1:10-1:50; FLISA: 1:1,000; WB: 1:50-1:100; Applications are based on unconjugated antibody.
• Immunogen: Synthetic peptide corresponding to a portion within aa288-317 from the C-terminal region of human EPM2A (O95278), conjugated to KLH.
• Conjugate: FITC
• Note: Preservative Free
• Special Handling: Light sensitive
• Preparation and Storage: Store product at 4 degree C if to be used immediately within two weeks. For long-term storage, aliquot to avoid repeated freezing and thawing and store at -20 degree C. Aliquots are stable at -20 degree C for 12 months after receipt. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: FITC conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(Western blot analysis of EPM2A (arrow) using rabbit polyclonal EPM2A Antibody (C-term). 293 cell lysates (2 ug/lane) either nontransfected (Lane 1) or transiently transfected with the EPM2A gene (Lane 2) (Origene Technologies).)

Immunohistochemistry (IHC)

(Formalin-fixed and paraffin-embedded human skeletal muscle tissue reacted with EPM2A antibody (C-term), which was peroxidase-conjugated to the secondary antibody, followed by DAB staining.)

Product Categories/Family for anti-EPM2A antibody

Antibodies; Disease Markers

References

1. Minassian B.A., Nat. Genet. 20:171-174(1998). 2. Ganesh S., Hum. Mol. Genet. 9:2251-2261(2000).

NCBI and Uniprot Product Information

• NCBI GI #: 11321613
• NCBI GeneID: 7957
• NCBI Accession #: NP_005661
• NCBI GenBank Nucleotide #: NM_005670.3
• UniProt Accession #: O95278; O95483; Q5T3F5; Q6IS15; Q8IU96; Q8IX24; Q8IX25; Q9BS66; Q9UEN2; B3KMU5; B4DRZ2; B3EWF7
• Molecular Weight: 36 kDa
• NCBI Official Full Name: laforin isoform a
• 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; EPM2A; LAFPTPase; lafora PTPase; glucan phosphatase; epilepsy, progressive myoclonus type 2, Lafora disease (laforin)
• UniProt Protein Name: Laforin
• Protein Family: EPM2A-interacting protein
• UniProt Gene Name: EPM2A
• UniProt Synonym Gene Names: LAFPTPase
• 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, Jul 2008]

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

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; glucose metabolic process; autophagy; pathogenesis; protein amino acid dephosphorylation

Disease: Myoclonic Epilepsy Of Lafora