The SCN5A gene homepage
| General information |
| Gene symbol |
SCN5A |
| Gene name |
sodium channel, voltage-gated, type V, alpha subunit |
| Chromosome |
3 |
| Chromosomal band |
p21 |
| Imprinted |
- |
| Genomic reference |
NG_008934.1 |
| Transcript reference |
NM_198056.2 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
662 |
| Unique public DNA variants reported |
426 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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, Jul 2008]
Also known as: HB1; HB2; HH1; IVF; VF1; HBBD; ICCD; LQT3; SSS1; CDCD2; CMD1E; CMPD2; PFHB1; Nav1.5 |
| Date created |
May 04, 2013 |
Active transcripts
| Copyright & disclaimer |
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