The tsc2 gene encodes a protein that functions as a key regulator of the mTOR signaling pathway, involved in cell growth and proliferation. It is involved in embryonic development, with expression in t...[+]

The tsc2 gene encodes a protein that functions as a key regulator of the mTOR signaling pathway, involved in cell growth and proliferation. It is involved in embryonic development, with expression in the neural tube and somites. The protein acts as a tumor suppressor, regulating cell size and proliferation. [-]

             lymphangioleiomyomatosis
             tuberous sclerosis 2
             tuberous sclerosis 1

          FOCAL CORTICAL DYSPLASIA, TYPE II; FCORD2
          LYMPHANGIOLEIOMYOMATOSIS; LAM
          TUBEROUS SCLEROSIS 2; TSC2

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD