KICS2is part of the KICSTOR complex, also containing SZT2, KPTN and ITFG2, which regulates the nutrient-dependent activation of the mTORC1 pathway. Bi-allelic missense and nonsense variants were identified in 11 affected individuals with variable intellectual disability, epilepsy and sometimes hearing loss. Functional characterization showed a dysregulation of mTORC1 activity likely due to a loss-of-function mechanism. For some variants the interaction with KICSTOR complex members SZT2 and KPTN was shown.
KICS2