Hamartin, encoded by the *TSC1* gene, is a tumor suppressor protein central to the regulation of cell growth and metabolic homeostasis. It forms a heterodimeric complex with tuberin (product of *TSC2*), collectively known as the TSC complex, which acts as a critical inhibitor of the mechanistic target of rapamycin (mTOR) signaling pathway. By integrating upstream signals such as nutrient availability, growth factors, and cellular stress, the TSC complex modulates mTOR activity, thereby controlling protein synthesis, autophagy, and cell proliferation. Dysregulation of Hamartin due to *TSC1* mutations disrupts this regulatory mechanism, leading to constitutive mTOR activation, a hallmark of tuberous sclerosis complex (TSC), a genetic disorder characterized by benign tumors in multiple organs, neurological deficits, and epilepsy.
Hamartin-specific antibodies are essential tools in biomedical research, enabling the detection and quantification of Hamartin expression in tissues or cell lines. They are widely used in techniques like Western blotting, immunohistochemistry, and immunofluorescence to study protein localization, interaction partners, and post-translational modifications. These antibodies also aid in diagnosing TSC and evaluating therapeutic responses to mTOR inhibitors (e.g., rapamycin analogs). Validated antibodies with high specificity are crucial, as cross-reactivity with unrelated proteins can confound results. Researchers often employ knockout cell lines or siRNA-mediated *TSC1* depletion to confirm antibody specificity. Beyond TSC, Hamartin antibodies contribute to broader studies on mTOR-driven pathologies, including cancer, metabolic disorders, and neurodegenerative diseases, underscoring their versatility in both basic and translational research.