Species Human Entrez 7248 | Human Mouse Ensembl ENSG00000165699 | |
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Aliases TSC1, LAM, TSC, tuberous sclerosis 1 External IDs OMIM: 605284 MGI: 1929183 HomoloGene: 314 GeneCards: TSC1 | ||
Tuberous sclerosis 1 (TSC1), also known as Hamartin, is a protein that in humans is encoded by the TSC1 gene.
Contents
Function
TSC1 forms a multi-protein complex with TSC2 and TBC1D7 known as the TSC complex. This complex negatively regulates mTORC1 signaling by functioning as a GTPase-activating protein (GAP) for the small GTPase Rheb, an essential activator of mTORC1. The TSC complex has been implicated as a tumor suppressor.
Clinical significance
Defects in this gene can cause tuberous sclerosis, due to a functional impairment of the TSC complex. Defects in TSC1 may also be a cause of focal cortical dysplasia. TSC1 may be involved in protecting brain neurons in the CA3 region of the hippocampus from the effects of stroke.
Interactions
TSC1 has been shown to interact with:
References
TSC1 Wikipedia(Text) CC BY-SA