Human GAMT ELISA Kit (HUFI04183)

Assay Genie's quantitative immunoassay enables researchers to measure guanidinoacetate N-methyltransferase, a hepatic mitochondrial enzyme that catalyzes the final methylation step producing creatine from guanidinoacetate in the de novo creatine biosynthesis pathway. Investigation of guanidinoacetate methyltransferase deficiency, an inherited neurological disorder characterized by intellectual disability, intractable seizures, and basal ganglia involvement, relies on accurate GAMT protein quantification in patient-derived fibroblasts, lymphoblasts, and tissue homogenates. The 96 Assays microplate configuration supports routine in vitro research workflows in neuromuscular and neurochemical laboratories, with sufficient wells for standard curves run in duplicate and multiple biological replicates. Kit components should be stored refrigerated upon arrival; reconstituted standards and biotinylated detection antibody retain activity through repeated freeze-thaw handling when working aliquots are prepared. Each kit ships with a pre-coated microwell plate, GAMT calibrator, detection antibody, streptavidin-enzyme conjugate, wash concentrate, chromogenic substrate, and stop reagent, providing a complete reagent set for quantitative analysis. Beyond clinical biochemistry applications, this ELISA is also deployed in muscle physiology and bioenergetics studies exploring the regulation of cellular phosphocreatine pools, supporting investigations into exercise physiology, mitochondrial disease models, and pharmacological screening of compounds modulating creatine metabolism.