Automated description from the Alliance of Genome Resources (Release 5.3.0)
Enables scaffold protein binding activity; ubiquitin protein ligase binding activity; and voltage-gated sodium channel activity involved in SA node cell action potential. Involved in sodium ion transmembrane transport. Acts upstream of or within cardiac ventricle development; regulation of heart contraction; and response to organic cyclic compound. Located in several cellular components, including T-tubule; intercalated disc; and lateral plasma membrane. Part of sodium channel complex. Is expressed in several structures, including cranial ganglion; epidermis; heart; sensory organ; and skeleton. Used to study Brugada syndrome 1; dilated cardiomyopathy 1E; long QT syndrome 3; progressive familial heart block type IA; and sick sinus syndrome. Human ortholog(s) of this gene implicated in heart conduction disease (multiple); intrinsic cardiomyopathy (multiple); and sudden infant death syndrome. Orthologous to human SCN5A (sodium voltage-gated channel alpha subunit 5).
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