Gene Detail

Gene Symbol TSC1
Synonyms LAM | TSC
Gene Description TSC1, TSC complex subunit 1, is a tumor suppressor (PMID: 30562755) that forms a complex with Tsc2 and inhibits mTOR pathway signaling, thus regulating cell growth and metabolism (PMID: 27226234). Germline TSC1 inactivating mutations cause tuberous sclerosis complex and somatic TSC1 mutations have been identified in various cancers, including renal cell carcinoma, mucosal melanoma, and breast cancer (PMID: 27226234, PMID: 30327302, PMID: 29185092, PMID: 28027327).
Entrez Id 7248
Chromosome 9
Map Location 9q34.13
Canonical Transcript NM_000368


Additional content available in CKB BOOST