Human TSC1 (hamartin) ELISA Kit (HUFI03994)

The Assay Genie TSC1/hamartin immunoassay provides quantitative measurement of the hamartin protein in human research samples, supporting investigations into the tuberous sclerosis pathway and mTOR signaling biology. Hamartin, the ~130 kDa product of the TSC1 gene, forms an obligate intracellular heterodimer with tuberin (TSC2) and acts as a key negative regulator of the mTORC1 complex through its GAP activity toward Rheb-GTP. Loss-of-function mutations in TSC1 disrupt this brake on growth-factor signaling and underlie tuberous sclerosis complex, a multi-organ hamartoma syndrome, making reliable quantification of hamartin levels relevant across oncology, neurology, and rare-disease research programs.

This microplate-format ELISA kit is configured for 96 Assays and is intended for laboratory research use only. The assay is built around matched capture and detection antibodies raised against human hamartin, with absorbance-based readouts on a standard plate reader. Compatible specimen types include human serum-derived and plasma-derived preparations, providing flexibility for translational studies working with banked clinical material. Each kit includes pre-coated plate(s), reference standard, detection reagents, and protocol documentation sufficient to establish a standard curve and run unknowns in parallel.

Hamartin interacts with multiple binding partners including TBC1D7, ERM proteins, and the cytoskeletal network, and altered expression has been reported in epilepsy tissue, lymphangioleiomyomatosis lesions, and a range of solid tumor contexts. Researchers using this kit can profile endogenous hamartin abundance, compare case-versus-control cohorts, or monitor pathway-relevant perturbations in cell culture and in vivo model systems. The assay supports western blot, immunoprecipitation, and immunohistochemistry workflows as a complementary orthogonal measurement, and integrates readily into studies of autophagy, cell size control, and growth-factor-driven proliferation.

For routine handling, store unopened kit components at refrigerated temperatures as specified on the product insert to preserve antibody activity and standard stability through the stated shelf life. Allow all reagents to equilibrate to room temperature before use, and avoid repeated freeze-thaw cycles of the reconstituted standard by aliquoting into single-use vials on first thaw.