Aliases for TTI2 Gene
External Ids for TTI2 Gene
Previous HGNC Symbols for TTI2 Gene
Previous GeneCards Identifiers for TTI2 Gene
This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [provided by RefSeq, May 2013]
GeneCards Summary for TTI2 Gene
TTI2 (TELO2 Interacting Protein 2) is a Protein Coding gene. Diseases associated with TTI2 include mental retardation, autosomal recessive 39 and severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome. GO annotations related to this gene include binding.
UniProtKB/Swiss-Prot for TTI2 Gene
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.