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Symbol TSC1 contributors: mct/npt/shn - updated : 02-10-2015
HGNC name tuberous sclerosis 1
HGNC id 12362
corresponding disease(s) TSC1 , FCDBC
related resource TSC Variation database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral germinal mutation      
in pulmonary lymphangioleiomyomatosis
tumoral somatic mutation      
in renal angiomyolipoma, clear cell renal carcinoma and bladder carcinoma
tumoral   LOH    
in transitional cell carcinoma of the bladder
tumoral   LOH    
in hamartoma
tumoral       loss of function
in hamartoma, in kidney tumor
tumoral somatic mutation     loss of function
two-hit mechanism of biallelic inactivation of TSC1 or TSC2, leading to activation of MTOR and to subependymal giant cell
tumoral     --other  
aberrantly expressed in breast cancer cell lines and breast tumour tissues with poor prognosis and promoters are seen to be methylated in breast tumour tissues
cells lacking TSC1 have cilia that are on average 1727 p100 longer than wild-type cells, which indicates a defect in normal ciliogenesis (Hartman 2009)
constitutional     --over  
increased resistance to oxygen glucose deprivation (OGD) by inducing productive autophagy through an MTOR-dependent mechanism
constitutional     --low loss of function
loss of the TSC1 gene in the distal convoluted tubules is sufficient for renal cystogenesis
Variant & Polymorphism
Candidate gene
Therapy target
targeting TSC1/2 as a strategy for boosting antitumor immune therapy
preventing the phosphorylation of TSC1 may have important clinical implications for the treatment or prevention of cancer
selective suppression of TBC1D7 and/or inhibition of the TBC1D7-TSC1 complex formation could be promising therapeutic strategies for lung cancer therapy
  • mutations in the Drosophila Tsc1 cause a phenotype characterized by enhanced growth and increased cell size with no change in ploidy (
  • Tsc1 knockout mouse died around embryonic days 10.5-11.5, frequently associated with neural tube unclosure while Tsc1(+/-) mice developed renal and extra-renal tumors such as hepatic hemangiomas (
  • Tsc1 null embryos die at mid-gestation from a failure of liver development whereas Tsc1 heterozygotes develop kidney cystadenomas and liver hemangiomas at high frequency (
  • Mice with ventricular loss of Tsc1 had a median survival of 6 months and developed a dilated cardiomyopathy with the occurrence of scattered foci of enlarged ventricular myocytes (
  • Tsc1+/- mice show social and cognitive deficits in the absence of apparent cerebral pathology and spontaneous seizures (
  • cells with mutation in TSC1 are hypersensitive to endoplasmic reticulum stress and undergo apoptosis (