Protein Domain : Voltage gated sodium channel, alpha-4 subunit, mammalian IPR008052

Type  Family
Description  Voltage-dependent sodium channels are transmembrane (TM) proteins responsible for the depolarising phase of the action potential in most electrically excitable cells []. They may exist in 3 states []: the resting state, where the channel is closed; the activated state, where the channel is open; and the inactivated state, where the channel is closed and refractory to opening. Several different structurally and functionally distinct isoforms are found in mammals, coded for by a multigene family, these being responsible for the different types of sodium ion currents found in excitable tissues.There are nine pore-forming alpha subunit of voltage-gated sodium channels consisting of four membrane-embedded homologous domains (I-IV), each consisting of six α-helical segments (S1-S6), three cytoplasmic loops connecting the domains, and a cytoplasmic C-terminal tail. The S6 segments of the four domains form the inner surface of the pore, while the S4 segments bear clusters of basic residues that constitute the channel's voltage sensors [ , , ].This entry represents the voltage-gated sodium channel alpha-4 subunits (Nav1.4, also known as SCN4A) from mammals.Nav1.4 is expressed in skeletal muscle [ ]. Mutations in Nav1.4 gene cause several diseases in humans, such as Paramyotonia congenita of von Eulenburg (PMC), Myotonia SCN4A-related (MYOSCN4A) and Periodic paralysis hyperkalemic (HYPP) [, , , , , ].
Short Name  Na_channel_a4su_mammal

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