| 靶标 | Sodium channel protein type 4 subunit alpha, SkM1, Sodium channel protein skeletal muscle subunit alpha, Sodium channel protein type IV subunit alpha, Voltage-gated sodium channel subunit alpha Nav1.4, SCN4A, Sodium channel protein type 5 subunit alpha, Sodium channel protein cardiac muscle subunit alpha, Sodium channel protein type V subunit alpha, Voltage-gated sodium channel subunit alpha Nav1.5, hH1, SCN5A |
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| 背景 | Sodium channel protein type 4 subunit alpha (Nav1.4,Nav1.5) is a ~208 kDa protein. Pore-forming subunit of Nav1.4, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues. Highly expressed in skeletal muscles, Nav1.4 generates the action potential crucial for muscle contraction. 1. Tsujino, A. et al. (2003) Proceedings of the National Academy of Sciences of the United States of America 100, 7377-82. PMID: 127662263. Carle, T. et al. (2006) Biochemical and biophysical research communications 348, 653-61. PMID: 168901915. Groome, JR. et al. (2008) Channels (Austin, Tex.) 2, 39-50. PMID: 186900547. Arnold, WD. et al. (2015) Annals of neurology 77, 840-50. PMID: 257075789. Zaharieva, IT. et al. (2016) Brain : a journal of neurology 139, 674-91. PMID: 2670068710. Baroni, D. et al. (2018) Human mutation 39, 1402-1415. PMID: 29992740 |
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