该基因编码一种生长抑制蛋白,被认为在稳定块茎素中起作用。这种基因的突变与结节性硬化症有关。选择性剪接导致多个转录变体。
This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants.
基因名: | TSC1 |
别名: | LAM,TSC |
基因ID: | 7248 |
Chromosome: (GRCh37) | 9 Start: 135766735 End: 135820020 Strand: -1 |
信号通路: | 细胞增殖 能量代谢 |
靶向药: | 依维莫司 MTOR Inhibitors 替西罗莫司/坦西莫司 |
化疗药: |