Ontology highlight
ABSTRACT:
SUBMITTER: Hinard V
PROVIDER: S-EPMC5413847 | biostudies-literature | 2017 May
REPOSITORIES: biostudies-literature
Hinard Valérie V Britan Aurore A Schaeffer Mathieu M Zahn-Zabal Monique M Thomet Urs U Rougier Jean-Sébastien JS Bairoch Amos A Abriel Hugues H Gaudet Pascale P
Human mutation 20170228 5
Voltage-gated sodium channels are pore-forming transmembrane proteins that selectively allow sodium ions to flow across the plasma membrane according to the electro-chemical gradient thus mediating the rising phase of action potentials in excitable cells and playing key roles in physiological processes such as neurotransmission, skeletal muscle contraction, heart rhythm, and pain sensation. Genetic variations in the nine human genes encoding these channels are known to cause a large range of dis ...[more]