Sodium channel protein type 4 subunit alpha

Definition

Pore-forming subunit of a voltage-gated sodium channel complex through which Na(+) ions pass in accordance with their electrochemical gradient. Alternates between resting, activated and inactivated states. Required for normal muscle fiber excitability, normal muscle contraction and relaxation cycles, and constant muscle strength in the presence of fluctuating K(+) levels.

References:

[1]. W David Arnold, et al. Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome. Ann Neurol. 2015 May;77(5):840-50. [Content Brief]

[2]. Xiaojing Pan, et al. Structure of the human voltage-gated sodium channel Nav1.4 in complex with β1. Science. 2018 Oct 19;362(6412):eaau2486. [Content Brief]

[3]. Tomoya Kubota, et al. New mutation of the Na channel in the severe form of potassium-aggravated myotonia. Muscle Nerve. 2009 May;39(5):666-73. [Content Brief]

[4]. Margaret S Dice, et al. Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M. Muscle Nerve. 2004 Sep;30(3):277-88. [Content Brief]

[5]. Akira Tsujino, et al. Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7377-82. [Content Brief]

[6]. Jadon Webb, et al. Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia. Neurology. 2008 Mar 4;70(10):755-61. [Content Brief]

[7]. Karima Habbout, et al. A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. Neurology. 2016 Jan 12;86(2):161-9. [Content Brief]

[8]. Thomas Carle, et al. Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis. Biochem Biophys Res Commun. 2006 Sep 22;348(2):653-61. [Content Brief]

[9]. Irina T Zaharieva, et al. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Brain. 2016 Mar;139(Pt 3):674-91. [Content Brief]

[10]. James R Groome, et al. Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating. Channels (Austin). 2008 Jan-Feb;2(1):39-50. [Content Brief]

[11]. Debora Baroni, et al. A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium channel. Hum Mutat. 2018 Oct;39(10):1402-1415. [Content Brief]

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