DISEASES

Disease-gene associations mined from literature

Literature associating TTI2 and nail-patella syndrome

TTI2 [ENSP00000478396]

TELO2-interacting protein 2; 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.

Synonyms:  TTI2,  TTI2p,  hTTI2,  E5RHM7,  E5RIH5 ...

Linkouts:  STRING  Pharos  UniProt