| Gene Symbol |
TSC1
|
| Gene Synonyms |
LAM TSC |
| Gene Full Name |
TSC complex subunit 1 |
| Gene Summary |
This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including TSC2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022] |
| Alternative Names |
Hamartin kiaa0243 LAM TSC Tsc1 Tsc1 gene TSC1_HUMAN Tuberous sclerosis 1 Tuberous sclerosis 1 protein tumor suppressor |
| Molecular Weight(MW) |
130 kDa |
| Cellular Localization |
Cytoplasm,Lysosome,Membrane. |