Tuberin/TSC2(Phospho-Ser1387) Rabbit Polyclonal Antibody, 50ul Organelle Studies MIM 612725) (McConnell et al

MIM 612725) (McConnell et al

This gene encodes the 58 kilodalton subunit of DNA primase| an enzyme that plays a key role in the replication of DNA

TP53 encodes a tumor suppressor protein containing transcriptional activation

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

It is heterogeneously expressed in the brain

Tuberin/TSC2(Phospho-Ser1387) Rabbit Polyclonal Antibody, 50ul Organelle Studies MIM 612725) (McConnell et alMutations 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.