Hamartin gene is mapped on chromosome 9q34 with 130 kDa containing a putativetransmembrane domain that is needed for the association of the Tuberin and is high in G1-phase arrested cells expressed all through the ongoing cell cycle. It is widely expressed in skeletal muscle as well as in brain, heart, placenta, liver, lung, kidney and embryonic kidney cells.
Hamartin is selectively induced by ischemia in hippocampal CA3 neurons and its ectopic expression at high level attenuates cellular proliferation. It also interacts with the ezrin-radixin-moesin family that activates the small GTP binding protein Rho to regulate cell adhesions.
Hamartin suppression increased locomotors activity and decreased habituation in a hippocampal-dependent task on the other hand overexpression in it will improved resistance to OGD through inducing productive autophagy by an mTORC1 dependent mechanism. Mutation of this gene implicated in cortical dysplasias associated to chronic epilepsy which exhibit a broad spectrum of structural changes resulted from alteration in proliferation, differentiation, migration and apoptosis of neural precursors during cortical development.
Gene name: TSC1
Protein name: Hamartin