TSC2 gene - MedlinePlus
网页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.
TSC2 Gene - GeneCards | TSC2 Protein | TSC2 Antibody
网页2024年8月6日 · 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.
Tuberous sclerosis complex - MedlinePlus
网页Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. Explore symptoms, inheritance, genetics of this condition.
Tuberous Sclerosis Complex - GeneReviews® - NCBI Bookshelf
网页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 disorder [...
Tuberous Sclerosis - StatPearls - NCBI Bookshelf
网页2024年5月27日 · Tuberous sclerosis involves mutations in genes TSC1 or TSC2, which are responsible for the production of proteins that regulate cell division and growth in the body. When gene mutations disrupt this balance, hamartomas may grow in the brain, skin, heart, kidney, liver, and lungs, affecting the function of these organs.
Gene test interpretation: TSC1 and TSC2 (tuberous sclerosis ... - UpToDate
网页2024年7月10日 · TSC1 and TSC2 are disease genes for tuberous sclerosis complex (TSC), a neurocutaneous disorder in which hamartomas and other benign tumors form in many organs including brain, skin, and kidneys. Neurological manifestations including autism, intellectual disability, and epilepsy are also common.
Tuberous Sclerosis Complex | National Institute of Neurological ...
网页2024年7月19日 · Tuberous sclerosis complex (TSC), also known as tuberous sclerosis, is a rare genetic disease that causes non-cancerous (benign) tumors to grow in the brain and several areas of the body, including the spinal cord, nerves, eyes, lung, heart, kidneys, and …
Tuberous sclerosis complex - Nature Reviews Disease Primers
网页2016年5月26日 · Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. The...
TSC2 is phosphorylated and inhibited by Akt and suppresses …
网页2002年8月12日 · Phosphorylation of TSC2 by Akt affects its function through at least two mechanisms: first, phosphorylation decreases the activity of TSC2; second, phosphorylation destabilizes TSC2 protein.
TSC2 pathogenic variants are predictive of severe clinical ...
网页2020年5月28日 · TSC2 pathogenic variants are associated with a more severe clinical phenotype than mosaic TSC2 or TSC1 variants in TSC infants. Early assessment of gene variant status and mosaicism might have ...
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