mTOR Phospho S2448 [59.Ser 2448]

The PIK-related kinases include Atm, DNA-PKCS and mTOR. The Atm gene is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) that is characterized by cerebellar degeneration and the appearance of dilated blood vessels in the conjunctivae of the eyes. AT cells are hypersensitive to ionizing radiation, impaired in mediating the inhibition of DNA synthesis, and they display delays in p53 induction. DNA-PK is a heterotrimeric DNA binding enzyme that is composed of a large subunit, DNA-PKCS, and two smaller subunits collectively known as Ku. The loss of DNA-PK leads to defects in DSB repair and V(D)J recombination. mTOR, also known as FRAP, can autophosphorylate on serine and bind to rapamycin/FKBP. mTOR is also an upstream regulator of S6 kinase and has been implicated in the regulation of p27 and p21 expression. mTOR autophosphorylates at Ser2481 under translationally repressive conditions. Phosphorylation of mTOR at Ser2448 is mediated by p70S6 kinase.