KIF26A belongs to Kinesin superfamily proteins (KIFs), which are microtubule-dependent proteins that transport mRNAs, protein complexes, and organelles in an ATP-and microtubule-dependent manner. KIF26A belongs to kinesin-11 family and unlike other KIFs, it lacks ATPase activity. This indicates that KIF26A does not function in motor transport, rather it plays important role in signal transduction. Zhou et al. shows that homozygous deletion of Kif26a suppresses the RET signaling pathway by direct binding and inhibition of growth factor receptor-bound protein 2 (Grb2), and this results in enteric neuronal hyperplasia with lethal megacolon. Through interaction with focal adhesion kinase (FAK), KIF26A also regulates neuronal migration in the brain. Both missense and frameshift pathogenic variants were reported in 10 affected individuals identified to date, resulting in loss of KIF26A function in signal transduction.
KIF26A