Human ADSSL1 (Adenylosuccinate synthetase isozyme 1) ELISA KIT (HUFI05472)

Skeletal muscle is the primary site of expression for ADSSL1, the muscle-enriched isozyme of adenylosuccinate synthetase. This enzyme catalyzes the magnesium-dependent conversion of inosine monophosphate and aspartate into adenylosuccinate, an early committed step in de novo purine nucleotide biosynthesis. Biallelic loss-of-function variants in ADSSL1 cause a metabolic myopathy with exercise intolerance, muscle weakness, and tubular aggregates on biopsy, and circulating ADSSL1 levels are increasingly explored as candidate biomarkers of muscle stress, training load, and disease severity in inherited myopathies.

The Assay Genie ADSSL1 ELISA kit provides a quantitative enzyme-linked immunosorbent assay workflow for the specific measurement of human ADSSL1 protein in research specimens. Each kit supplies reagents for 96 Assays, run on standard microplate equipment with an absorbance-based chromogenic endpoint quantified on a conventional plate reader. The protocol accommodates standard curves, blank wells, and unknown samples, supporting biomarker validation studies, screening of patient cohorts for ADSSL1 deficiency, and basic investigation of muscle-specific purine biosynthesis. Research groups working in muscle metabolism, neuromuscular disease, and translational biomarker development will find this kit a practical tool for quantifying circulating ADSSL1.