The phosphatidylinositol kinase (PIK) family members fall into two distinct subgroups. The first subgroup contains proteins such as the PI 3- and PI 4-kinases and the second group comprises the PIK-related kinases. The PIK-related kinases include Atm, DNA-PKCS and FRAP. These proteins have in common a region of homology at their carboxy-termini that is not present in the PI 3- and PI 4-kinases. The Atm gene is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) that is characterized by cerebellar degeneration (ataxia) and the appearance of dilated blood vessels (telangiectases) in the conjunctivae of the eyes. AT cells are hypersensitive to ionizing radiation, impaired in mediating the inhibition of DNA synthesis and 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. FRAP can autophosphorylate on serine and bind to Rapamycin/FKBP. FRAP is also an upstream regulator of S6 kinase and has been implicated in the regulation of p27 and p21 expression.
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Număr Catalog 992-HA500126CategorieAfaceri și industrie > Știință și laboratorFurnizorHUABIOGentaurDimensiune100ulTipsingle
