The TSC2 gene provides instructions for producing a protein called tuberin. Within cells, tuberin interacts with a protein called hamartin, which is produced from the TSC1 gene. These two proteins help control cell growth and division (proliferation) and cell size.

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.

Jul 13, 1999 · Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, TSC …

Mar 30, 2025 · TSC2 (TSC Complex Subunit 2) is a Protein Coding gene. Diseases associated with TSC2 include Lymphangioleiomyomatosis and Focal Cortical Dysplasia, Type Ii. Among its related pathways are Translation Insulin regulation of translation and MTOR signalling.

Sep 3, 2024 · About 75% to 90% of patients with SC carry a mutation in TSC1 or TSC2, which encodes the proteins hamartin and tuberin, which are inhibitor complexes considered to be tumor suppressor genes. Mutations in these proteins cause benign brain, skin, lung, heart, liver, and kidney hamartomas.

Tuberous sclerosis is caused by the mutation of one of two tumor suppressor genes, TSC1 or TSC2. Currently, the development of novel techniques and great advances in high-throughput genetic analysis made mutation screening of the TSC1 and TSC2 genes more widely available.

Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the brain, kidneys, heart, skin, and other organs, in some cases leading to significant health problems.

Mar 4, 2025 · Title: Novel MSH2 and TSC2 variants in a Chinese family with Lynch syndrome and their synergistic impact in urothelial carcinoma. CBAP regulates the function of Akt-associated TSC protein complexes to modulate mTORC1 signaling.

Aug 12, 2002 · TSC1 and TSC2 proteins form a physical and functional complex in vivo. Here, we show that TSC1–TSC2 inhibits the p70 ribosomal protein S6 kinase 1 (an activator of translation) and activates...

Dec 12, 2024 · If you have a mutation in the TSC2 gene, this means you have a condition called Tuberous Sclerosis Complex (TSC). TSC2 increases your risk for certain types of cancers and typically benign tumors including: