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Description
Purified anti-Laforin. Laforin, encoded by the gene EPM2A, is a dual-specificity phosphatase protein. Mutations in EPM2A are the most common mutations found in Lafora disease (LD), a fatal progressive myoclonus epilepsy disease characterized by the accumulation of polyglucosan inclusion bodies, termed Lafora bodies, in various tissues, including neurons, muscle and liver. Through alternative splicing, 2 transcripts are produced from EMP2A gene, a major form termed laf331 and a minor form termed laf317. Laf331 is localized in the cytoplasm while laf317 is targeted to the nucleus. These two isoforms interact with each other and can form homo- and heterodimers. Malin, encoded by the gene EPM2B, is a ubiquitin ligase also defective in Lafora disease. Inhibition of the ubiquitin proteasome system (UPS) lead to the accumulation of laforin and malin in aggresomes, suggesting that deficits in the UPS system may underlie the pathogenesis of LD. In addition, the laforin/malin complex was shown to negatively regulate glycogen synthesis via modulating cellular glycogen uptake, which is usually high in LD cells. Being a glycogen phosphatase, deficits in laforin also leads to increased phosphorylation of glycogen in vivo, indicating the importance of laforin in glycogen metabolism.
Immunogen
Fusion protein corresponding to amino acids 1-331 (full-length) of human Laforin