Name: Anti-EPM2A Antibody (CAB7007)
Brand: Autophagy Antibodies
SKU: CAB7007
Availability: OutOfStock

Antibody Name:	Anti-EPM2A Antibody
Antibody SKU:	CAB7007
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IF
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 244-331 of human EPM2A (NP_005661.1).

Application:	WB IF
Recommended Dilution:	WB 1:500 - 1:2000 IF 1:50 - 1:100
Reactivity:	Human, Mouse, Rat
Positive Samples:	HeLa, Mouse brain, Mouse heart, Mouse testis, Rat brain

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 244-331 of human EPM2A (NP_005661.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	MLPQ AVCL LHAL LEKG HIVY VHCN AGVG RSTA AVCG WLQY VMGW NLRK VQYF LMAK RPAV YIDE EALA RAQE DFFQ KFGK VRSS VCSL
Gene ID:	7957
Uniprot:	O95278
Cellular Location:	Cytoplasm
Calculated MW:	9kDa/15kDa/20kDa/22kDa/24kDa/35kDa/37kDa
Observed MW:	37kDa

Synonyms:	EPM2A, EPM2, MELF, laforin
Background:	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.

UniProt Protein Function:	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.
UniProt Protein Details:	Protein type:EC 3.1.3.16; EC 3.1.3.48; Motility/polarity/chemotaxis; Protein phosphatase, dual-specificity Chromosomal Location of Human Ortholog: 6q24 Biological Process: negative regulation of TOR signaling pathway; positive regulation of macroautophagy Disease: Myoclonic Epilepsy Of Lafora
NCBI Summary:	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 Code:	O95278
NCBI GenInfo Identifier:	50400258
NCBI Gene ID:	7957
NCBI Accession:	O95278.2
UniProt Secondary Accession:	O95278,O95483, Q5T3F5, Q6IS15, Q8IU96, Q8IX24, Q8IX25 Q9BS66, Q9UEN2, B3KMU5, B4DRZ2,
UniProt Related Accession:	O95278,B3EWF7
Molecular Weight:	35,169 Da
NCBI Full Name:	Laforin
NCBI 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
UniProt Synonym Protein Names:	Glucan phosphatase; Lafora PTPase; LAFPTPase
Protein Family:	EPM2A-interacting protein
UniProt Gene Name:	EPM2A
UniProt Entry Name:	EPM2A_HUMAN

	Western blot analysis of extracts of various cell lines, using EPM2A antibody (CAB7007) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 90s.
	Immunofluorescence analysis of HeLa cells using EPM2A antibody (CAB7007). Blue: DAPI for nuclear staining.