Tuberin/TSC2(Phospho-Ser1387) Rabbit Polyclonal Antibody, 100ul Liquid Storage Consumables Mutations in this gene result

Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis

|Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family

Mutations in RPS19 cause Diamond-Blackfan anemia (DBA)

45 µm pore size and PVDF membrane

eukaryotic translation elongation factor 1 alpha 1 is identified as an autoantigen in 66% of patients with Felty syndrome

Tuberin/TSC2(Phospho-Ser1387) Rabbit Polyclonal Antibody, 100ul Liquid Storage Consumables Mutations in this gene resultMutations 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.