Immunoblot against crude membrane fractions from whole rat (RBM) or mouse (MBM) brain and from human hippocampus [HBM(H)], cerebral cortex [HBM(Cx)] or cerebellum [HBM(Cb)] probed with N84/37 (left) or N52A/42 (right) TC supe.
Epilepsy, Progressive Myoclonus Type 2A, Lafora Disease (Laforin) is encoded by the gene EPM2A. EPM2A is a member of the protein-tyrosine phosphatase family. EPM2A is a dual-specificity phosphatase that acts on complex carbohydrates to prevent glycogen hyperphosphorylation and the formation of insoluble aggregates. EPM2A promotes the ubiquitination of proteins involved in glycogen metabolism via its interactions with the E3 ubiquitin ligase NHLRC1/malin. EPM2A is expressed in the heart, skeletal muscle, kidney, pancreas, and the brain. Diseases associated with EPM2A include Myoclonic Epilepsy of Lafora, Myoclonic Epilepsy of Unverricht And Lundborg, and benign epilepsy with centrotemporal spikes.
Fusion protein amino acids 1-331 (full-length) of human Laforin (also known as Lafora PTPase, LAFPTPase and EPM2A, accession number O095278); Rat: 90% identity (296/327 amino acids identical); Mouse: 89% identity (295/327 amino acids identical)
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