Gene Symbol | TSC1 |
Entrez Gene ID | 7248 |
Full Name | TSC complex subunit 1 |
Synonyms | LAM,TSC |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jun 2009]. |
Disorder MIM: | |
Disorder Html: | Tuberous sclerosis-1, 191100 (3); Lymphangioleiomyomatosis, 606690 (3); Focal cortical dysplasia, type II, somatic, 607341 (3) |