TBCK

TBCK is a multidomain protein pairing an N-terminal TBC (Tre-2/Bub2/Cdc16) domain, a RabGAP-like module, and a C-terminal pseudokinase domain of uncertain catalytic status. It localizes to the actin cytoskeleton and adhesion sites, where it is required for cell attachment, spreading, and cytoskeletal organization, and it has been proposed to act within mTORC1-related growth control through its GAP-like region. Biallelic TBCK mutations cause an autosomal-recessive infantile-onset syndrome of hypotonia, global developmental delay, epilepsy, and characteristic facial features, sometimes with elevated creatine kinase. Recombinant TBCK facilitates research on this neurodevelopmental disorder and on TBC-domain pseudokinase biology.