Human WFS1 ELISA Kit (HUFI05649)

This Assay Genie kit enables quantitative measurement of wolframin, the endoplasmic reticulum transmembrane glycoprotein encoded by WFS1. Loss-of-function mutations in this gene cause Wolfram syndrome, an autosomal recessive disorder characterized by early-onset insulin-dependent diabetes, progressive optic atrophy, sensorineural hearing loss, and central diabetes insipidus. The WFS1 protein participates in ER calcium homeostasis and the unfolded protein response, and altered expression has been reported in studies of bipolar disorder and stress-related neuronal signaling. Researchers employ this assay to investigate beta-cell survival mechanisms, neurodegeneration pathways, and genotype-phenotype correlations among carriers of pathogenic variants. The kit is validated for human wolframin and exhibits negligible cross-reactivity with rodent WFS1 orthologs. Components include a pre-coated microplate, lyophilized reference standards, biotinylated detection antibody, streptavidin-HRP conjugate, wash concentrate, and substrate solution. Reagents should be refrigerated upon arrival and stored frozen in working aliquots to preserve activity through repeated freeze-thaw cycles. Intended for research use only; not approved for clinical diagnostic procedures.