Tuberin/TSC2(Phospho-Ser1387) Rabbit Polyclonal Antibody, 50ul Organelle Studies the N-terminal cytoplasmic domain is

the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus

It contains a 5' CpG island that may be a frequent target of hypermethylation| and it may undergo hypermethylation-based silencing in some bladder cancers

disease:Defects in NOTCH1 are a cause of aortic valve disease

MIM 612725) (McConnell et al

Tuberin/TSC2(Phospho-Ser1387) Rabbit Polyclonal Antibody, 50ul Organelle Studies the N-terminal cytoplasmic domain isMutations 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.