SCN1B gene encodes a beta-1 subunit of voltage-gated sodium channels, known as sodium channel subunit beta-1 (SCN1B). Voltage-gated sodium channels are multimeric protein complexes which consist of an ion-conducting pore forming alpha-subunit regulated by one or more beta-1, beta-2 and beta-3. Beta-1 and beta-3 combine with alpha subunit by non-covalent bond, while beta-2 is covalently linked by disulfide bonds. For voltage-gated Na+ channel functional property, alpha subunit provides channel activity, and beta-1 subunit modulates the kinetics of channel inactivation. The protein has two isoforms: isoform 1 is highly expressed in skeletal muscle, heart and brain. Like isoform 1, isoform 2 presents a very high level in brain and skeletal muscle, and it is also highly expressed in heart, placenta, lung, liver, kidney and pancreas.
|Basic Information of SCN1B|
|Protein Name||Sodium channel subunit beta-1|
|Aliases||ATFB13, BRGDA5, EIEE52, GEFSP1|
|Organism||Homo sapiens (Human)|
SCN1B is crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. SCN1B can modulate multiple alpha subunit isoforms from the brain, skeletal muscle, and heart. Its association with NFASC may target the sodium channels in the nodes of Ranvier in developing axons and retain these channels at the nodes in mature myelinated axons. Mutations in the SCN1B gene are associated with generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction.
Fig.1 Schematic showing overlap between Brugada and other inherited cardiac arrhythmia syndromes resulting from genetic defects secondary to loss-of-function of sodium (INa) and/or calcium (ICa) channel current. (Savio-Galimberti, 2018)
This article finds that disrupted intracellular Ca2+ homeostasis in ventricular myocytes life-threatening arrhythmias may partly attribute to mutations of SCN1B.
This article finds two known and two novel SCN1B variants with low evidence of pathogenicity, providing more evidence regarding the occurrence of SCN1B variants in Brugada syndrome.
This article suggests abnormal neuronal patterning caused by SCN1B deletion may induce hyperexcitability.
This article reveals that β1bP213T subunit on Nav1.5 function is consistent with an LQTS phenotype and provides evidence that SCN1Bb may be a new gene probably responsible for LQTS.
This article suggests that Scn1b regulates the dorsal root ganglion nociceptor excitability in vivo by modulating both I(Na) and I(K).
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