EPM2A Antibody
Description
Product Specs
Product Science Overview
Laforin is a protein encoded by the EPM2A gene and is primarily known for its role in Lafora disease, a fatal autosomal recessive neurodegenerative disorder. Lafora disease is characterized by the presence of glycogen-like intracellular inclusions called Lafora bodies. These inclusions are found in the cytoplasm of cells in the central nervous system and other organs . Laforin is a member of the dual-specificity protein phosphatase family and plays a crucial role in regulating glycogen metabolism and autophagy .
The preparation of mouse anti-human laforin antibodies involves several steps:
- Antigen Preparation: The human laforin protein is expressed and purified using recombinant DNA technology. The purified protein serves as the antigen for immunization.
- Immunization: Mice are immunized with the purified human laforin protein. The immunization process typically involves multiple injections over several weeks to elicit a strong immune response.
- Hybridoma Production: Spleen cells from the immunized mice are fused with myeloma cells to create hybridoma cells. These hybridoma cells are screened for the production of antibodies specific to human laforin.
- Antibody Purification: The antibodies produced by the hybridoma cells are purified using techniques such as protein A/G affinity chromatography.
Laforin’s primary function is to dephosphorylate glycogen, preventing the formation of poorly branched glycogen that accumulates as Lafora bodies . The protein’s phosphatase activity is crucial for maintaining normal glycogen metabolism. However, recent studies have shown that the phosphatase activity of laforin is not essential for rescuing mice from Lafora disease . Instead, laforin’s role in regulating autophagy and its interaction with the E3 ubiquitin ligase malin are critical for preventing the accumulation of Lafora bodies .
Laforin regulates autophagy via the mammalian target of rapamycin (mTOR) kinase-dependent pathway . The loss of laforin impairs autophagy, leading to the accumulation of autophagy substrates and contributing to cell stress and death . The interaction between laforin and malin is essential for controlling abnormal glycogen accumulation through intracellular proteolytic systems .
