| TSC2 |
| LOCUS ID | 7249 | ||||||||||
| GENE_SYMBOL | TSC2 | ||||||||||
| GENE NAME | tuberous sclerosis 2 | ||||||||||
| SYNONYMNS | LAM, TSC4, PPP1R160 | ||||||||||
| CHROMOSOME | 16 | ||||||||||
| HOMOLOGENE ID | 462 |
| microRNAs | NA | NA |
| GENE 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. Altertive splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
| OBSERVATIONS |
|---|
| 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 |