Human Homogentisate-1,2-Dioxygenase (HGD) ELISA Kit

Alkaptonuria, tyrosine catabolism, and related metabolic disease research benefit from accurate quantification of human Homogentisate-1,2-dioxygenase (HGD), the non-heme iron-dependent enzyme that converts homogentisic acid to maleylacetoacetic acid. Loss-of-function mutations in the HGD gene cause alkaptonuria, a rare autosomal-recessive disorder marked by homogentisic acid accumulation, dark urine, and progressive ochronotic damage to connective tissue, cartilage, and cardiac valves.

This Assay Genie ELISA Kit provides a quantitative immunoassay for human HGD in tissue homogenates and cell lysates. The 96-assay configuration accommodates full standard curves and replicate wells, supporting small cohort screens, pilot biomarker work, and pathway-level studies of aromatic amino-acid breakdown without committing to higher-throughput formats.

Each kit is supplied for research use only and is intended for laboratory investigations of HGD enzymatic activity, alkaptonuria pathogenesis, and downstream metabolite profiling in human disease models.