| TSC1 |
| LOCUS ID | 7248 | ||||||||||
| GENE_SYMBOL | TSC1 | ||||||||||
| GENE NAME | tuberous sclerosis 1 | ||||||||||
| SYNONYMNS | LAM, TSC | ||||||||||
| CHROMOSOME | 9 | ||||||||||
| HOMOLOGENE ID | 314 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| 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. Altertive splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. Mutation of either TSC1 or TSC2 causes TSC disease, which is characterized by formation of hamartomas in multiple organs. Although the role of TSC-mTOR pathway in tumor and cancer development has been extensively studied, more recent studies have indicated a role for mTOR function in appetite, memory, aging, and energy metabolism. Dysregulation of the TSC-mTOR pathway may cause not only tumor development but also metabolic disorders such as diabetes and its complications. | 18926585 |