tuberinの例文
- This gene encodes tuberin, a guanosine triphosphatase activating protein.
- Tuberous sclerosis ( TSC ) is caused by mutations in either of TSC1 and TSC2, which encode for the proteins hamartin and tuberin respectively.
- Because Tuberin regulates cell size, along with the protein Hamartin coded by the gene TSC1, mutations to these genes may prevent the control of cell growth in the lungs of individuals.
- They further demonstrated that tuberin / TSC2 is a critical substrate of AKT, and together with the laboratory of John Blenis they discovered that AKT phosphorylation of tuberin / TSC2 is required for activation of mTOR TORC1 kinase activity via regulation of the small GTPase rheb.
- They further demonstrated that tuberin / TSC2 is a critical substrate of AKT, and together with the laboratory of John Blenis they discovered that AKT phosphorylation of tuberin / TSC2 is required for activation of mTOR TORC1 kinase activity via regulation of the small GTPase rheb.
- "TSC1 " encodes for the protein hamartin, is located on chromosome 9 q34, and was discovered in 1997 . " TSC2 " encodes for the protein tuberin, is located on chromosome 16 p13.3, and was discovered in 1993 . " TSC2 " is contiguous with " PKD1 ", the gene involved in one form of polycystic kidney disease ( PKD ).