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. Hamartin coded by the gene TSC1 functions as a facilitator of Hsp90 in chaperoning of Tuberin, therefore preventing its ubiquitination and degradation in the proteasome. Alternative splicing results in multiple transcript variants encoding different isoforms of the protein. Mutations in TSC2 can cause Lymphangioleiomyomatosis, a dis… WebDec 24, 2024 · Autosomal dominant polycystic kidney disease is defined as an inherited disorder characterized by renal cyst formation due to mutations in the PKD1 or PKD2 gene, whereas tuberous sclerosis complex is an autosomal dominant neurocutaneous syndrome caused by mutation or deletion of the TSC2 gene. A TSC2/PKD1 contiguous gene …
TSC2 is phosphorylated and inhibited by Akt and suppresses
WebAug 12, 2002 · TSC2 is inactivated by Akt-dependent phosphorylation, which destabilizes TSC2 and disrupts its interaction with TSC1. Our data indicate a molecular mechanism for … WebThe tumor-suppressor proteins TSC1 and TSC2 are associated with an autosomal dominant disorder known as tuberous sclerosis complex (TSC). TSC1 and TSC2 function as a heterodimer to inhibit cell growth and proliferation. Another protein, mTOR (mammalian target of rapamycin), is regarded as a central … bird orange tail
Tuberin/TSC2 Antibody Cell Signaling Technology
WebMay 5, 2015 · Abstract. Hepatocellular carcinoma (HCC) is the third leading cause of cancer deaths worldwide and hyperactivation of mTOR signaling plays a pivotal role in HCC … WebTuberous 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 … WebNov 23, 2024 · Tuberous Sclerosis Complex (TSC) is a genetic disorder with multiorgan involvement, a broad phenotype with inter and intra-familiar variability and well-established clinical diagnostic criteria (Table 1) [1,2,3,4]. Germline pathogenic variants in TSC1 and TSC2 are identified in 75–90% of patients with the clinical diagnosis and at least 60% of TSC … damn the man save the empire