Human EPM2AIP1 (EPM2A-interacting protein 1) ELISA KIT (HUFI05272)

The Assay Genie Human EPM2AIP1 ELISA Kit enables quantitative measurement of Malin, the E3 ubiquitin ligase product of the EPM2AIP1 gene, in human serum and plasma specimens. EPM2AIP1 partners with laforin (EPM2A) to regulate glycogen metabolism and protein clearance, and pathogenic variants in both genes cause Lafora disease, an autosomal recessive progressive myoclonus epilepsy characterized by polyglucosan inclusion accumulation in neurons and other tissues. Investigators in epilepsy genetics, neurodegeneration, and glycogen storage disorder research apply this assay to characterize malin expression in clinical research cohorts and disease models. The kit is configured for a 96-well microplate workflow with a 100 uL sample volume per well, and unopened reagents should be refrigerated at 2-8°C between uses. Individual components are intended for single-use aliquots to avoid repeated freeze-thaw cycles. The capture antibody is human-specific, with no significant cross-reactivity against rodent malin orthologs, supporting clean quantification in human-derived samples. Researchers commonly pair this ELISA with Western blot validation and immunohistochemistry on matched tissue to corroborate circulating malin findings with cellular localization patterns.