Human FKRP (Fukutin-related protein) ELISA KIT (HUFI05218)

The Fukutin-related protein (FKRP) ELISA kit from Assay Genie supports quantitative measurement of FKRP in human research specimens. FKRP is a Golgi-resident ribitol-5-phosphate transferase essential for proper glycosylation of alpha-dystroglycan, the modification that anchors the extracellular matrix to the muscle cell cytoskeleton.

Mutations in the FKRP gene underlie a spectrum of dystroglycanopathies, including limb-girdle muscular dystrophy type 2I, congenital muscular dystrophy type 1C, and Walker-Warburg syndrome. Investigators studying these neuromuscular disorders use FKRP quantification to characterize patient biospecimens, explore genotype-phenotype relationships, and evaluate candidate therapeutics in translational research programs.

The assay accommodates circulating human samples, supporting biomarker studies in affected individuals and matched controls. It serves research workflows exploring muscle membrane integrity, glycosylation pathway function, and congenital myopathy mechanisms. Each kit includes all components required to run the assays specified, with reagents, buffers, and a pre-coated plate supplied for laboratory use. Intended for research use only.

Reagent storage and handling recommendations accompany the kit to preserve component stability across the experimental workflow. The complete package contains standards, detection antibodies, wash buffers, and substrate solution, providing a self-contained setup for research laboratories focused on neuromuscular disease biology and dystroglycanopathy investigation.