Epilepsy, Progressive Myoclonus Type 2A (Lafora Disease, EPM2A, Laforin, LD, LDE, EPM2, MELF, LAFPTPase, FLJ11207, KIAA0766)

Laforin, also known as Lafora PTPase and EPM2A, is a 38kD member of the protein tyrosine phosphatase family. Human Laforin is 331 aa in length and contains one carbohydrate binding type-20 (CBM20) domain (aa 1-124) and one tyrosine-protein phosphatase domain (aa 243-311). Multiple splicing variants produce four isoforms of human Laforin, which is most highly expressed in heart, skeletal muscle, kidney, pancreas and brain. It functions as a dual specificity protein phosphatase and may be involved in the control of glycogen metabolism. Mutations in Laforin cause progressive myoclonic epilepsy type 2, also known as Lafora disease. | |Applications:|Suitable for use in RIA, Immunofluorescence, Flow Cytometry, ELISA, Western Blot, Immunoprecipitation, Immunohistochemistry, Immunocytochemistry. Other applications not tested.||Recommended Dilution:|Western Blot: 1ug/ml|Optimal dilutions to be determined by the researcher.||Storage and Stability:|Lyophilized powder may be stored at -20°C. Stable for 12 months at -20°C. Reconstitute by adding sterile 40-50% glycerol, aliquot and store at -20°C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.