Tuberous sclerosis complex 2 (TSC2), also known as tuberin, is a protein that in humans is encoded by the TSC2 gene. Mutations in this gene lead to tuberous sclerosis. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases.

TSC is a rare genetic disease causing benign tumours to grow in the brain and on other vital organs. A combination of symptoms may include seizures, developmental delay, behavioural problems, skin abnormalities, lung and kidney disease.

2024年12月25日 · This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth.

Tuberin is a protein encoded by the TSC2 gene, located on chromosome 16, that plays a role in controlling cell growth and proliferation. It acts as a negative regulator of cell-cycle progression by stabilizing levels of p27KIP1, inhibiting cell-cycle progression.

2022年1月14日 · Tuberin is found on chromosome 16 (16p13.3) and is a large 1807 amino acid protein with a molecular weight of 180 KDa (European Chromosome 16 Tuberous Sclerosis Consortium, 1993). The mRNA transcript harbors 41 exons and …

2017年6月28日 · Tuberin is a fundamental player in the regulation of cell growth and protein synthesis through its downstream inhibition of mTOR during the G1/S transition . Tuberin contains a C-terminal GAP domain allowing its GTPase activating functions. Tuberin has the ability to bind Ras homolog enriched in brain (Rheb).

2002年12月4日 · Tuberous sclerosis complex (TSC) is a tumor suppressor gene syndrome characterized by seizures, mental retardation, autism, and tumors of the brain, kidney, heart, retina, and skin. TSC is caused...

2002年12月5日 · Tuberous sclerosis complex (TSC) is a tumor suppressor gene syndrome characterized by seizures, mental retardation, autism, and tumors of the brain, kidney, heart, retina, and skin. TSC is caused by mutations in either TSC1 or TSC2, both of which are tumor suppressor genes.

Tuberin Tuberous sclerosis complex (TSC) is an autosomal dominant disorder and is characterized by the presence of hamartomas in many organs, such as brain, skin, heart, lung, and kidney. It is caused by mutation either TSC1 or TSC2 tumor suppressor gene.

An intracellular signaling and tumor suppressor protein that forms a complex with TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN (TSC1) and other signaling factors to negatively regulate MTORC1 and affect cell growth and proliferation.