Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of newly synthesized PIKKs.
You, Sobreira, Gable, Jurgens, Grange, Belnap, Siniard, Szelinger, Schrauwen, Richholt, Vallee, Dinulos, Valle, Armanios, Hoover-Fong: "A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex." in: American journal of human genetics, Vol. 98, Issue 5, pp. 909-18, (2016) (PubMed).
Aliases for TTI2 抗体
TELO2 interacting protein 2 (TTI2) 抗体 TELO2 interacting protein 2 (Tti2) 抗体 C8orf41 抗体