Uses
Anti-Tuberin (VV-18) antibody produced in rabbit may be used in immunoblotting and immunoprecipitation.
General Description
Tuberin is encoded by the gene tuberous sclerosis complex subunit 2 (TSC2) which is mapped on the human chromosome at 16p13.3. Tuberin gene is widely expressed in mammalian cell lines and tissues. It co-localizes with hamartin in most tissues and cell types. Tuberin is found in cytosolic, microsomal, cytoskeletal, and vesicular fractions and in certain cells. It is also localized to the nucleus.
Biochem/physiol Actions
Tuberin along with hamartin plays a role in the regulation of cell cycle, cell growth and cell differentiation. It also plays a role in cell adhesion and vesicular trafficking. Tuberin has a guanidine triphosphatase (GTPase) activating protein homology (GAP) domain thatis involved in the regulation of the small GTPase Ras homolog enriched in brain (RHEB) both in vitro and in vivo. Tuberin along with hamartin forms a functional cytoplasmic complex that inhibits growth by inhibiting phosphorylation of S6 kinase 1 (S6K1) and 4E binding protein 1 (4EBP1), probably through their upstream modulator mammalian target of rapamycin (mTOR). Mutations in the tuberous sclerosis complex subunit 2 (TSC2) gene are associated with tuberous sclerosis (TSC), an autosomal dominant hereditary disease characterized by mental retardation, seizures and benign tumors (hamartomas) in multiple organs including the kidney, brain, heart and skin. Tuberin and hamartin are involved in the phosphoinositide 3-kinase/ Akt signal transduction pathway.
