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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SCN5A (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID6331
Official gene symbolSCN5A
Full namesodium channel, voltage-gated, type V, alpha subunit
Aliases,CDCD2,CMD1E,CMPD2,HB1,HB2,HBBD,HH1,ICCD,IVF,LQT3,Nav1.5,PFHB1,SSS1,VF1,
Gene summaryThe protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq]
LocationChromosome: 3   Locus: 3p21
Gene position38691164 - 38589553  Map Viewer
Gene orientationminus
Gene size101612 bp
Gene sequence
OMIM ID600163