Basic Information

Symbol
SCN8A
RNA class
mRNA
Alias
Sodium Voltage-Gated Channel Alpha Subunit 8 Nav1.6 CerIII NaCh6 CIAT PN4 MED Sodium Channel, Voltage Gated, Type VIII, Alpha Subunit Voltage-Gated Sodium Channel Subunit Alpha Nav1.6 Sodium Channel Protein Type 8 Subunit Alpha Sodium Channel, Voltage Gated, Type VIII, Alpha Polypeptide Sodium Channel, Voltage Gated, Type VIII Alpha Subunit Voltage-Gated Sodium Channel Type VIII Alpha Protein Sodium Channel Protein Type VIII Subunit Alpha HNa6/Scn8a Voltage-Gated Sodium Channel EIEE13 MYOCL2 BFIS5 DEE13
Location (GRCh38)
12:51590266-51812864
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001330260.2
Sequence length
11559.0 nt
GC content
0.4710

Transcripts

ID Sequence Length GC content
NM_001177984.3 NCBI
GGGGAGCGCUCCAAGAUGGCGCCCACCGCAGUCCCGCCCGCCGCAUCCU… 11436 nt 0.4705
NM_001330260.2 NCBI
GGGGAGCGCUCCAAGAUGGCGCCCACCGCAGUCCCGCCCGCCGCAUCCU… 11559 nt 0.4710
NM_001369788.1 NCBI
GGGGAGCGCUCCAAGAUGGCGCCCACCGCAGUCCCGCCCGCCGCAUCCU… 11436 nt 0.4709
NM_014191.4 NCBI
GGGGAGCGCUCCAAGAUGGCGCCCACCGCAGUCCCGCCCGCCGCAUCCU… 11559 nt 0.4706
Summary

This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] CIViC Summary for SCN8A Gene

Forensic Context

A study in humans demonstrated that transcriptomic profiling of left ventricular myocardium at autopsy from sudden death cases identified the SCN8A as a sodium channel gene up-regulated in arrhythmic deaths, particularly within the top 50 samples expressing active fibrosis markers and in female arrhythmic cases compared to males [Caudal et al. DOI:10.1016/j.jacep.2024.08.013]. This dysregulation, alongside other ion-channel and fibrosis-related genes, defines an acute vulnerable substrate for fatal arrhythmias that is undetectable by conventional clinical methods.