BackgroundMutations 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]
Storage/StabilityStore at -20°C. Supplied in 50mM Tris-Glycine(pH 7.4), 0.15M NaCl, 40% Glycerol, 0.01% sodium azide and 0.05% BSA. Stable for 12 months from date of receipt.
Western blot detection of Tuberin in Hela,A549,MCF-7,293T cell lysates using Tuberin antibody(1:1000 diluted).
Western blot analysis of extracts from A431 cells using db12165 at 1:1000.
Immunohistochemical analysis of paraffin-embedded human hepatic carcinoma using db12165 antibody.