这个基因的突变导致结节性硬化症。其基因产物被认为是一种肿瘤抑制因子,能够刺激特定的GTP酶。这种蛋白在细胞溶质复合体中与哈马汀结合,可能作为哈马汀的伴侣。选择性剪接导致编码不同亚型的多个转录变体。
Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms.

基因名:TSC2
别名:LAM,PPP1R160,TSC4
基因ID:7249
Chromosome:
(GRCh37)
16 Start: 2097466 End: 2138716 Strand: 1
信号通路: 细胞增殖  基因组不稳定  能量代谢 
靶向药: 依维莫司  MTOR Inhibitors 
化疗药: