| Entrez Gene ID | 7248 |
|---|---|
| Official Gene Symbol | TSC1 (GeneCards) |
| Full name | TSC complex subunit 1 |
| Location | 9q34.13 |
| Other ids | Vega : OTTHUMG00000020844 MIM : 605284 HGNC : HGNC:12362 Ensembl : ENSG00000165699 |
| Other names | LAM, TSC |
| Summary | 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) signalling 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. [provided by RefSeq, Apr 2018] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 556 | 7248 | TSC1 | 9 | 135772900 | 135772900 | Tuberous sclerosis1 | DHPLC |
| 1564 | 7248 | TSC1 | 9 | 135804196 | 135804196 | Focal Cortical Dysplasias | DHPLC HiSeq 2500 MiSeq |
| 1565 | 7248 | TSC1 | 9 | 135804196 | 135804196 | Focal Cortical Dysplasias | DHPLC HiSeq 2500 MiSeq |
| 1566 | 7248 | TSC1 | 9 | 135804196 | 135804196 | Focal Cortical Dysplasias | DHPLC HiSeq 2500 MiSeq |
| 1567 | 7248 | TSC1 | 9 | 135802635 | 135802635 | Focal Cortical Dysplasias | DHPLC HiSeq 2500 MiSeq Sanger |
| 13383 | 7248 | TSC1 | 9 | 135812999 | 135812999 | Asymptomatic | DHPLC HiSeq 2500 MiSeq Sanger HiSeq X Ten |