Gene Symbol | TSC2 |
Entrez Gene ID | 7249 |
Full Name | TSC complex subunit 2 |
Synonyms | LAM,PPP1R160,TSC4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Tuberous sclerosis-2, 613254 (3); Lymphangioleiomyomatosis, somatic, 606690 (3); ?Focal cortical dysplasia, type II, somatic, 607341 (3) |