DISEASES

Disease-gene associations mined from literature

Literature on TSC1

TSC1 [ENSP00000298552]

Tuberous sclerosis 1 protein; In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling; Armadillo-like helical domain containing

Synonyms:  TSC1,  TSC1p,  hTSC1,  Q86WV8,  Q92574 ...

Linkouts:  STRING  Pharos  UniProt  OMIM