2024年12月25日 · TSC1 (TSC Complex Subunit 1) is a Protein Coding gene. Diseases associated with TSC1 include Tuberous Sclerosis 1 and Lymphangioleiomyomatosis.Among its related pathways are MTOR signalling and Gene expression (Transcription).Gene Ontology (GO) annotations related to this gene include binding and protein-folding chaperone binding.

2022年12月6日 · Tuberous sclerosis is a genetic disorder caused by gene changes — sometimes called mutations — in either the TSC1 or the TSC2 gene. These genes are thought to prevent cells from growing too fast or in an out-of-control way. Changes in either of these genes can cause cells to grow and divide more than needed.

Lymphangioleiomyomatosis TSC1 gene variants (also known as mutations) can cause a disorder called lymphangioleiomyomatosis (LAM), although variants in the TSC2 gene appear to be responsible for most cases of this disorder. This destructive lung disease is caused by the abnormal overgrowth of smooth muscle-like tissue in the lungs. It occurs almost exclusively in …

1999年7月13日 · 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-associated neuropsychiatric …

2024年9月3日 · Tuberous sclerosis complex (TSC) is a genetic disorder inherited in an autosomal dominant fashion and is characterized by an increased predisposition to hamartoma formation.[1] TSC results from mutations in the genes TSC1 and TSC2 and is known for causing neurological disorders, including epilepsy and intellectual disability.[2] Other organ systems involved …

TSC1 and TSC2 genetic variants whose functional effect is not definitely pathogenic would not be considered a major diagnostic criterion. Finally, a normal result from TSC1 and TSC2 testing does not exclude TSC, since a fraction of TSC patients has no mutation identified by conventional genetic testing. Nonetheless, if the mutation in an ...

This review provides a first comprehensive evaluation of TSC1 and illuminates its diverse functions apart from its involvement in TSC genetic disorder. Further, we have summarized the physiological functions of TSC1 in various cellular events and conditions whose dysregulation may lead to several pathological manifestations including cancer.

Since its initial discovery as the gene altered in Tuberous Sclerosis Complex (TSC), an autosomal dominant disorder, the interest in TSC1 (Tuberous Sclerosis Complex 1) has steadily risen. TSC1, an essential component of the pro-survival PI3K/AKT/MTOR signaling pathway, plays an important role in processes like development, cell growth and proliferation, survival, autophagy …

Abstract. TSC1 and TSC2 are the tumour-suppressor genes mutated in the tumour syndrome TSC (tuberous sclerosis complex). Their gene products form a complex that has become the focus of many signal transduction researchers. The TSC1–TSC2 (hamartin–tuberin) complex, through its GAP (GTPase-activating protein) activity towards the small G-protein Rheb (Ras …

Hamartin (TSC1), the protein that is defective in tuberous sclerosis-1, has no significant homology to tuberin (TSC2; 191092), the protein defective in tuberous sclerosis-2, which is a putative GTPase-activating protein for RAP1 (see 600278) and RAB5 (). Van Slegtenhorst et al. (1998) showed that hamartin and tuberin associate physically in vivo, however, and that the …