Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.

ABSTRACT: The primary cilium is a non-motile sensory organelle that extends from the surface of most vertebrate cells and transduces signals regulating proliferation, differentiation, and migration. Primary cilia dysfunctions have been observed in cancer and in a group of heterogeneous disorders called ciliopathies, characterized by renal and liver cysts, skeleton and limb abnormalities, retinal degeneration, intellectual disability, ataxia, and heart disease and, recently, in autism spectrum disorder, schizophrenia, and epilepsy. The potassium voltage-gated channel subfamily H member 1 (KCNH1) gene encodes a member of the EAG (ether-à-go-go) family, which controls potassium flux regulating resting membrane potential in both excitable and non-excitable cells and is involved in intracellular signalin

SUBMITTER: Napoli G 

PROVIDER: S-EPMC9363390 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature