Human PIGO ELISA Kit (HUFI07223)

The PIGO protein (Phosphatidylinositol Glycan Anchor Biosynthesis Class O) is an endoplasmic reticulum membrane enzyme that completes the final step of glycosylphosphatidylinositol (GPI) anchor biosynthesis by transferring a phosphoethanolamine moiety to the third mannose of the GPI precursor. Loss-of-function variants in the PIGO gene cause Hyperphosphatasia with Mental Retardation Syndrome 2 (HPMRS2), also known as Mabry syndrome, a rare congenital disorder of glycosylation characterized by markedly elevated serum alkaline phosphatase, severe intellectual disability, seizures, and distinctive facial dysmorphism.

This Assay Genie enzyme-linked immunosorbent assay is intended for quantitative measurement of human PIGO and supports research in glycobiology, GPI-anchor biogenesis, and inherited glycosylation disorders. The standard curve spans 0.156–10 ng/mL with a minimum detectable dose of approximately 0.08 ng/mL, and the protocol uses 100 µL of sample per well. The kit is supplied as a precoated microplate with lyophilized recombinant standards, biotinylated detection antibody, streptavidin-HRP conjugate, wash buffer, and substrate solution in individual vials; store all components refrigerated at 4 °C and protect the substrate vial from prolonged light exposure. Investigators studying Mabry syndrome pathogenesis, cell-surface GPI-anchored protein biology, or in vitro models of congenital glycosylation defects can apply this assay in translational and basic research workflows.