| Entrez gene ID | | 6331 |
| Official gene symbol | | SCN5A |
| Full name | | sodium channel, voltage-gated, type V, alpha subunit |
| Aliases | | ,CDCD2,CMD1E,CMPD2,HB1,HB2,HBBD,HH1,ICCD,IVF,LQT3,Nav1.5,PFHB1,SSS1,VF1, |
| Gene summary | | The 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] |
| Location | | Chromosome: 3 Locus: 3p21 |
| Gene position | | 38691164 - 38589553 Map Viewer |
| Gene orientation | | minus |
| Gene size | | 101612 bp |
| Gene sequence |
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| OMIM ID | | 600163 |
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