It’s the GeneMedi’s summary page for Target/Biomarker Introduction of TSC1. The page also collects GeneMedi’s different modalities and formats products for TSC1 in therapeutics/drug discovery and IVD diagnostics, which is including antibody, ADC, bispecific, antigen, ORF vector, VLP, etc. With GeneMedi’s target-insight database-GM ITD database, the TSC1 target is also connected to human indications/diseases/conditions/MOA.
Target sublocation: Transmembrane Protein.
This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including TSC2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]