Coiled Coil Domain Containing Protein 125 (CCDC125)

Isaac"""s syndrome is a movement disorder characterized by hyperexcitability of peripheral motor nerves. Patients with Isaac"""s syndrome often develop auto-antibodies to voltage-gated potassium channels (VGKCs) which block their function. However, anti-VGKC antibodies are not detected in all patients with Isaac"""s syndrome, suggesting the existence of another etiology. Expression analysis of Kenae/CCDC125 revealed that its transcript was highly expressed in tissues associated with the immune system, such as the thymus, spleen and bone marrow. In cells stably expressing Kenae/CCDC125, delay in cell motility and deregulation of RhoGTPase (RhoA, Rac1 and cdc42) activity to extracellular stimuli were demonstrated. Kenae/CCDC125, acts as a regulator of cell motility through RhoA, Rac1 and cdc42.