The proteins encoded by TELO2, TTI1, and TTI2 interact to form the TTT complex, a co-chaperone for maturation of the phosphatidylinositol 3-kinase-related protein kinases (PIKKs). Here we report six affected individuals from four families with intellectual disability (ID) and neurological and other congenital abnormalities associated with compound heterozygous variants in TELO2. Although their fibroblasts showed reduced steady-state levels of TELO2 and the other components of the TTT complex, PIKK functions were normal in cellular assays. Our results suggest that these TELO2 missense variants result in loss of function, perturb TTT complex stability, and cause an autosomal-recessive syndromic form of ID.
Pubmed ID: 27132593 RIS Download
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Collection of curated, non-redundant genomic DNA, transcript RNA, and protein sequences produced by NCBI. Provides a reference for genome annotation, gene identification and characterization, mutation and polymorphism analysis, expression studies, and comparative analyses. Accessed through the Nucleotide and Protein databases.
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View all literature mentionsThis polyclonal targets TELO2
View all literature mentionsThis monoclonal targets mTOR
View all literature mentionsThis polyclonal targets goat anti-mouse IgG-HRP
View all literature mentionsThis polyclonal targets goat anti-rabbit IgG-HRP
View all literature mentionsThis monoclonal targets beta-actin
View all literature mentionsThis polyclonal targets Trrap
View all literature mentionsThis polyclonal targets SMG-1 (V72)
View all literature mentionsThis monoclonal targets Human ATM, phospho (Ser1981)
View all literature mentionsThis polyclonal targets goat anti-mouse IgG-HRP
View all literature mentionsThis polyclonal targets goat anti-rabbit IgG-HRP
View all literature mentionsThis monoclonal targets beta-actin
View all literature mentionsThis polyclonal targets Trrap
View all literature mentionsThis polyclonal targets SMG-1 (V72)
View all literature mentionsThis monoclonal targets Human ATM, phospho (Ser1981)
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