Species Human Entrez 11280 | Human Mouse Ensembl ENSG00000168356 | |
Aliases SCN11A, FEPS3, HSAN7, NAV1.9, NaN, PN5, SCN12A, SNS-2, sodium voltage-gated channel alpha subunit 11 External IDs OMIM: 604385 MGI: 1345149 HomoloGene: 8041 GeneCards: SCN11A | ||
Sodium channel, voltage-gated, type XI, alpha subunit also known as SCN11A or Nav1.9 is a voltage-gated sodium ion channel protein which in humans is encoded by the SCN11A gene.
Contents
Function
Voltage-gated sodium channels are membrane protein complexes that play a fundamental role in the rising phase of the action potential in most excitable cells. Alpha subunits, such as SCN11A, mediate voltage-dependent gating and conductance, while auxiliary beta subunits regulate the kinetic properties of the channel and facilitate membrane localization of the complex. Aberrant expression patterns or mutations of alpha subunits underlie a number of disorders. Each alpha subunit consists of 4 domains connected by 3 intracellular loops; each domain consists of 6 transmembrane segments and intra- and extracellular linkers.
Clinical significance
Mutations in this gene have been associated to loss of pain perception.