Hamartin Antibody / TSC1

Hamartin also known as tuberous sclerosis 1 is a protein that in humans is encoded by the TSC1 gene. It is mapped to 9q34.13. This peripheral membrane protein was implicated as a tumor suppressor. It forms a complex with TSC2 that regulates mTORC1 signaling and may be also involved in vesicular transport and docking. Hamartin and TSC2 have critical roles in neuronal polarity, and that a common pathway regulates polarization and growth in neurons and cell size in other tissues. Hamartin is a growth inhibitory protein whose biologic effect is probably dependent on its interaction with tuberin. It also can affect cell proliferation via deregulation of G1 phase. Loss or perturbation of Hamartin function leads to loss of adhesion to the cellular matrix and initiates the development of TSC hamartomas.