Entrez gene ID | | 7249 |
Official gene symbol | | TSC2 |
Full name | | tuberous sclerosis 2 |
Aliases | | ,FLJ43106,LAM,TSC4, |
Gene summary | | Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] |
Location | | Chromosome: 16 Locus: 16p13.3 |
Gene position | | 2097990 - 2138713 Map Viewer |
Gene orientation | | plus |
Gene size | | 40724 bp |
Gene sequence |
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OMIM ID | | 191092 |
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