Human HGSNAT (Heparan-alpha-glucosaminide N-acetyltransferase) ELISA KIT (HUFI05150)

Heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) is a lysosomal transmembrane protein essential for the stepwise catabolism of heparan sulfate proteoglycans. Loss-of-function mutations in the HGSNAT gene on chromosome 8p11.21 cause mucopolysaccharidosis type IIIC (Sanfilippo C syndrome), a progressive neurodegenerative lysosomal storage disorder characterized by early-childhood cognitive decline, behavioral disturbances, and shortened lifespan. The Assay Genie ELISA kit enables quantitative measurement of human HGSNAT protein, supporting research into MPS IIIC pathophysiology, genotype-phenotype correlations across the four Sanfilippo subtypes (A, B, C, and D), and evaluation of experimental gene-replacement therapies.

Validated for use with cell lysates, tissue homogenates, and patient-derived fibroblasts from affected individuals and unaffected controls, the kit supports in vitro enzymology and translational workflows in academic and clinical research laboratories. With 96 assays per package in a pre-coated microplate format, the assay accommodates medium-throughput screening of CRISPR-corrected iPSC lines, lentiviral-transduced cellular models, and small-cohort patient sample panels. Each kit includes detection antibody, calibrator standards for curve generation, wash buffer, and substrate reagent. Researchers studying lysosomal dysfunction biomarkers, heparan sulfate accumulation, or biomarker panels distinguishing MPS III subtypes frequently incorporate this kit into their experimental pipeline.