EPM2A sirna

EPM2A siRNA (Human)

Cat. Num. AAA8220737

• Gene Names: EPM2A; EPM2; MELF
• Reactivity: Human
• Applications: RNA Interference (RNAi)
• Purity: > 97%
• Synonyms: EPM2A; EPM2A siRNA (Human); Laforin; Glucan phosphatase; Lafora PTPase; LAFPTPase; EPM2A sirna

• Host: Synthetic
• Reactivity: Human
• Specificity: EPM2A siRNA (Human) is a target-specific 19-23 nt siRNA oligo duplexes designed to knock down gene expression.
• Purity/Purification: > 97%
• Form/Format: Lyophilized powder
• Sequence Length: 317

• Applicable Applications for EPM2A sirna: RNA Interference (RNAi)
• Quality Control: Oligonucleotide synthesis is monitored base by base through trityl analysis to ensure appropriate coupling efficiency. The oligo is subsequently purified by affinity-solid phase extraction. The annealed RNA duplex is further analyzed by mass spectrometry to verify the exact composition of the duplex. Each lot is compared to the previous lot by mass spectrometry to ensure maximum lot-to-lot consistency.
• Directions for Use: We recommends transfection with 100 nM siRNA 48 to 72 hours prior to cell lysis. Before resuspending, briefly centrifuge the tube to ensure the lyophilized siRNA is at the bottom of the tube. Resuspend the siRNA oligos to an appropriate concentration with DEPC water. For each vial, suitable for 250 transfections in 24 well plate (20 pmol for each well).
• Components: We offer pre-designed sets of 3 different target-specific siRNA oligo duplexes of human EPM2A gene. Each vial contains 5 nmol of lyophilized siRNA. The duplexes can be transfected individually or pooled together to achieve knockdown of the target gene, which is most commonly assessed by qPCR or western blot. Our siRNA oligos are also chemically modified (2'-OMe) at no extra charge for increased stability and enhanced knockdown in vitro and in vivo.
• Preparation and Storage: Shipped at 4 degree C. Store at -20 degree C for one year.

Related Product Information for EPM2A sirna

siRNA to inhibit EPM2A expression using RNA interference

NCBI and Uniprot Product Information

• NCBI GI #: 66346728
• NCBI GeneID: 7957
• NCBI Accession #: NP_001018051.1
• NCBI GenBank Nucleotide #: NM_001018041.1
• UniProt Accession #: O95278; O95483; Q5T3F5; Q6IS15; Q8IU96; Q8IX24; Q8IX25; Q9BS66; Q9UEN2; B3KMU5; B4DRZ2; B3EWF7
• Molecular Weight: 35,169 Da
• NCBI Official Full Name: laforin isoform b
• 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
• 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: Motility/polarity/chemotaxis; EC 3.1.3.16; EC 3.1.3.48; Protein phosphatase, dual-specificity

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; protein tyrosine phosphatase activity; carbohydrate phosphatase activity; protein serine/threonine phosphatase activity

Biological Process: glycogen metabolic process; nervous system development; glycogen biosynthetic process; habituation; inositol phosphate dephosphorylation; carbohydrate metabolic process; glucose metabolic process; autophagy; pathogenesis; protein amino acid dephosphorylation

Disease: Myoclonic Epilepsy Of Lafora