Entrez gene ID | | 7248 |
Official gene symbol | | TSC1 |
Full name | | tuberous sclerosis 1 |
Aliases | | ,KIAA0243,LAM,MGC86987,TSC, |
Gene summary | | This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq] |
Location | | Chromosome: 9 Locus: 9q34 |
Gene position | | 135820020 - 135766735 Map Viewer |
Gene orientation | | minus |
Gene size | | 53286 bp |
Gene sequence |
| |
OMIM ID | | 605284 |