Analytical Data
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Gene name
EPM2A
- Application
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Alternative Names
Epilepsy progressive myoclonus type 2 Lafora disease (laforin); Epilepsy progressive myoclonus type 2A Lafora disease (laforin); EPM2; Epm2a; Epm2a gene;
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Species
Human
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Source
E. coli
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Tag
GST-tag at N-terminal
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Purity
Greater than 90% as determined by SDS-PAGE.
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Uniprot
O95278
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Expression Region
1-331aa
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AA Sequence
MRFRFGVVVPPAVAGARPELLVVGSRPELGRWEPRGAVRLRPAGTAAGDGALALQEPGLWLGEVELAAEEAAQDGAEPGRVDTFWYKFLKREPGGELSWEGNGPHHDRCCTYNENNLVDGVYCLPIGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSRILPNIWLGSCPRQVEHVTIKLKHELGITAVMNFKTEWDIVQNSSGCNRYPEPMTPDTMIKLYREEGLAYIWMPTPDMSTEGRVQMLPQAVCLLHALLEKGHIVYVHCNAGVGRSTAAVCGWLQYVMGWNLRKVQYFLMAKRPAVYIDEEALARAQEDFFQKFGKVRSSVCSL
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Molecular Weight
63.6 kDa
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Endotoxin
< 1.0 EU per μg protein as determined by the LAL method.
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Form
Freeze-dried powder
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Buffer formulation
PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300.
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Reconstitution
Reconstitute in ddH2O to a concentration of 0.1-0.5 mg/mL. Do not vortex.
- Customization
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Stability Test
The thermal stability is described by the loss rate. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37℃ for 48h, and no obvious degradation and precipitation were observed. The loss rate isless than 8% within the expiration date under appropriate storage condition.
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Storage & Shelf Life
Samples are stable for up to twelve months from date of receipt at -20℃ to -80℃. Store it under sterile conditions at -20℃ to -80℃. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
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Shipping
In general, recombinant proteins are supplied as lyophilized powder and shipped at ambient temperature. For bulk packages, the proteins are provided as frozen liquid and shipped with blue ice, unless otherwise requested by the customer.
Quality inspection process
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Protein Description
EPM2A, also known as laforin, is a dual-specificity phosphatase that plays a crucial role in glycogen metabolism and has been linked to Lafora disease, an autosomal recessive epilepsy characterized by the accumulation of abnormal glycogen-like inclusions in various tissues. The EPM2A gene encodes laforin, which is involved in the regulation of glycogen synthesis and breakdown, and its malfunction leads to severe neurological symptoms due to the abnormal storage of glycogen. The study of EPM2A recombinant protein has gained importance in understanding the molecular mechanisms underlying Lafora disease, particularly how mutations in the EPM2A gene affect laforin's function. Pathological studies have revealed that mutant forms of laforin often lose their phosphatase activity or fail to interact properly with other cellular components, leading to the dysregulation of glycogen metabolism. By producing recombinant EPM2A protein, researchers can investigate its biochemical properties, assess the impact of specific mutations, and explore potential therapeutic strategies. Additionally, understanding the structure-function relationship of laforin may provide insights into designing small molecules or gene therapies for Lafora disease. This ongoing research emphasizes the significance of EPM2A in cellular metabolism and its critical role in neurological health, highlighting the need for continued exploration into this area to develop effective treatments for affected individuals.
