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 西罗莫司 
化疗药: