Human GMPPB ELISA Kit (HUFI04087)

This quantitative immunoassay from Assay Genie measures GDP-mannose pyrophosphorylase B (GMPPB), a glycosyltransferase that participates in O-mannosylation of alpha-dystroglycan and in dolichol-phosphate-mannose biosynthesis. Because functional GMPPB is essential for proper dystroglycan glycosylation, the kit supports laboratory research into congenital muscular dystrophies, limb-girdle muscular dystrophies, dystroglycanopathies, and congenital myasthenic syndromes linked to GMPPB sequence variants.

Configured as a complete in vitro assay kit with a pre-coated microplate and the reagents needed to generate a standard curve and quantify endogenous GMPPB in human samples, the product enables colorimetric readouts in standard laboratory plate readers. The protocol is validated for use with human clinical specimens, making it appropriate for comparative analyses between patient and control cohorts in translational studies of neuromuscular and glycosylation disorders. Researchers can apply the kit for biomarker investigations, genotype-phenotype correlations, and pathway-focused studies of dystroglycan-related disease mechanisms. Each kit is intended for research use only and is supplied with the buffers, standards, and detection components required to perform the assay from start to finish.