TSC1 at 9q34

The TSC1-TSC2 complex functions as GTPase activating protein against Rheb - a Ras-like small GTPase, which in turn regulates TOR signaling in nutrient-stimulated cell growth.

Pathology

 germline mutations in tuberous sclerosis
 somatic mutations in tumors

• in vesical urothelial carcinoma (12%)

See also

 FRAP1 (mTOR)
 tuberous sclerosis
 Locus TSC2 (MIM.191092) at 16p13.3
 Locus TSC3 at 12q14 (MIM.191091)
 Locus TSC4 (MIM.191090)

References

 Findlay GM, Harrington LS, Lamb RF. TSC1-2 tumour suppressor and regulation of mTOR signalling: linking cell growth and proliferation? Curr Opin Genet Dev. 2005 Feb;15(1):69-76. PMID: #15661536#

 Inoki K, Corradetti MN, Guan KL. Dysregulation of the TSC-mTOR pathway in human disease. Nat Genet. 2005 Jan;37(1):19-24. PMID: #15624019#

 Fingar DC, Blenis J. Target of rapamycin (TOR): an integrator of nutrient and growth factor signals and coordinator of cell growth and cell cycle progression. Oncogene. 2004 Apr 19;23(18):3151-71. PMID: #15094765#

 Pan D, Dong J, Zhang Y, Gao X. Tuberous sclerosis complex: from Drosophila to human disease. Trends Cell Biol. 2004 Feb;14(2):78-85. PMID: #15102439#

 Yeung RS. Multiple roles of the tuberous sclerosis complex genes. Genes Chromosomes Cancer. 2003 Dec;38(4):368-75. PMID: #14566857#