| Species |
Homo sapiens |
| Alternate Name(s) |
LAM, TUBERIN |
| Epilepsy-Associated Disorder(s) |
tuberous sclerosis |
| Description |
tuberous sclerosis 2
|
| Chromosome |
16
|
| Locus |
16p13.3 |
| Rat Homolog |
Tsc2
|
| Protein Alignment |
Homo sapiens:
Rattus norvegicus:
 |
| Reference(s) |
Crino PB, Henske EP. New developments in the neurobiology of the tuberous sclerosis complex. Neurology. 1999 Oct 22;53(7):1384-90.
Hengstschlager M, Rosner M, Fountoulakis M, Oh JE, Lubec G. Protein levels of alpha1-tubulin, protein disulfide isomerase, tropomyosins and vimentin are regulated by the tuberous sclerosis gene products. Cancer Lett. 2004 Jul 16;210(2):219-26.
Majores M, Blumcke I, Urbach H, Meroni A, Hans V, Holthausen H, Elger CE, Schramm J, Galli C, Spreafico R, Wiestler OD, Becker AJ. Distinct allelic variants of TSC1 and TSC2 in epilepsy-associated cortical malformations without balloon cells. J Neuropathol Exp Neurol. 2005 Jul;64(7):629-37.
Vinters HV, Kerfoot C, Catania M, Emelin JK, Roper SN, DeClue JE. Tuberous sclerosis-related gene expression in normal and dysplastic brain. Epilepsy Res. 1998 Sep;32(1-2):12-23.
Rendtorff ND, Bjerregaard B, Frodin M, Kjaergaard S, Hove H, Skovby F, Brondum-Nielsen K, Schwartz M. Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. Hum Mutat. 2005 Aug 19; [Epub ahead of print].
Tavazoie SF, Alvarez VA, Ridenour DA, Kwiatkowski DJ, Sabatini BL. Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Nat Neurosci. 2005 Dec;8(12):1727-34. Epub 2005 Nov 6.
Wolf HK, Normann S, Green AJ, von Bakel I, Blumcke I, Pietsch T, Wiestler OD, von Deimling A. Tuberous sclerosis-like lesions in epileptogenic human neocortex lack allelic loss at the TSC1 and TSC2 regions. Acta Neuropathol (Berl). 1997 Jan;93(1):93-6.
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