TSC1

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.