Mouse anti-Human, Rat EPM2A Monoclonal Antibody | anti-EPM2A antibody

EPM2A (Laforin, Lafora PTPase, LAFPTPase, EPM2) (Biotin)

Cat. Num. AAA6141757

• Gene Names: EPM2A; EPM2; MELF
• Reactivity: Human, Rat
• Applications: ELISA, Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: EPM2A; Monoclonal Antibody; EPM2A (Laforin; Lafora PTPase; LAFPTPase; EPM2) (Biotin); anti-EPM2A antibody

• Host: Mouse
• Reactivity: Human, Rat
• Clonality: Monoclonal
• Isotype: IgG2a,k
• Clone Number: 6C6
• Specificity: Recognizes human EPM2A. Species Crossreactivity: rat.
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Biotin.

• Applicable Applications for anti-EPM2A antibody: ELISA (EIA), Western Blot (WB)
• Application Notes: Applications are based on unconjugated antibody.
• Immunogen: Partial recombinant corresponding to aa101-200 from EPM2A (NP_001018051) with GST tag. MW of the GST tag alone is 26kD.
• Immunogen Sequence: GNGPHHDRCCTYNENNLVDGVYCLPIGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSRILPNIWLGSCPRQVEHVTIKLKHELGITAVMNFQTEWDIV*
• Conjugate: Biotin
• 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. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(Western Blot detection against Immunogen (37kD).)

Western Blot (WB)

(EPM2A monoclonal antibody, Western Blot analysis of EPM2A expression in PC-12.)

Western Blot (WB)

(Western Blot analysis of EPM2A expression in transfected 293T cell line by EPM2A monoclonal antibody Lane 1: EPM2A transfected lysate (37.2kD). Lane 2: Non-transfected lysate.)

Testing Data

(Detection limit for recombinant GST tagged EPM2A is ~1ng/ml as a capture antibody.)

Related Product Information for anti-EPM2A antibody

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.

Product Categories/Family for anti-EPM2A antibody

Antibodies; Disease Markers

References

1. Glycogen hyperphosphorylation underlies lafora body formation. Turnbull J, Wang P, Girard JM, Ruggieri A, Wang TJ, Draginov AG, Kameka AP, Pencea N, Zhao X, Ackerley CA, Minassian BA.Ann Neurol. 2010 Oct 28. 2. Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vitro. Tagliabracci VS, Turnbull J, Wang W, Girard JM, Zhao X, Skurat AV, Delgado-Escueta AV, Minassian BA, Depaoli-Roach AA, Roach PJ.Proc Natl Acad Sci U S A. 2007 Dec 4;104(49):19262-6. Epub 2007 Nov 26.

NCBI and Uniprot Product Information

• NCBI GI #: 11321613
• NCBI GeneID: 7957
• NCBI Accession #: NP_001018051
• NCBI GenBank Nucleotide #: NM_001018041
• UniProt Accession #: O95278; B3EWF7
• Molecular Weight: 35kDa
• NCBI Official Full Name: laforin isoform a
• NCBI Official Synonym Full Names: EPM2A glucan phosphatase, laforin
• NCBI Official Symbol: EPM2A
• NCBI Official Synonym Symbols: EPM2; MELF
• NCBI Protein Information: 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 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, adult-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]

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