基因名称:TSC1 (tuberous sclerosis 1)
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:
简介: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.
TSC1突变与药物:
LOSS-OF-FUNCTION
药物:
依维莫司
Everolimus (RAD001) MTOR Inhibitors 疾病:
膀胱癌
肾细胞癌 结节性硬化
FRAMESHIFT TRUNCATION
药物:
依维莫司
Rapamycin (Sirolimus) 疾病:
浸润性膀胱移行细胞癌 非小细胞肺癌
R1062W
药物:
Ziv-阿柏西普
疾病:
结节性硬化