Literature associating TSC1 and scalp-ear-nipple syndrome
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 ...