Symbol: Name: ID: |
SCN5A sodium channel, voltage-gated, type V, alpha subunit GFS:518 |
Gene name: | SCN5A |
Chromosome: | 3p21 |
Previous Symbols: | CMD1E |
Previous Names: | sodium channel, voltage-gated, type V, alpha (long QT syndrome 3) |
Aliases: | Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD |
Name Aliases: | long QT syndrome 3 |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:98251 | Rat Genome Database ID: | RGD:3637 |
HGNC ID: | HGNC:10593 | RefSeq IDs: | NM_000335 |
Entrez Gene ID: | 6331 | Ensembl Gene ID: | ENSG00000183873 |
VEGA IDs: | OTTHUMG00000156166 | UniProt ID: | Q14524 |
UCSC ID: | uc011ayr.1 | OMIM ID: | 600163 |
Pubmed: | PMID7842012 PMID 15466643 PMID 16382098 | ||
CCDS IDs: | CCDSCCDS46796.1 CCDS CCDS46797.1 CCDS CCDS46798.1 CCDS CCDS46799.1 |
The protein encoded by SCN5A 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].
This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant Na(+) channel isoform. This channel is responsible for the initial upstroke of the action potential in the electrocardiogram
Products for SCN5A gene
Catalog | Product Name | Application | Company |
GFS:E00518 | sodium channel, voltage-gated, type V, alpha subunit; ELISA kit | ELISA | n/a |
GFS:A00518 | sodium channel, voltage-gated, type V, alpha subunit; Anti | ANTIBODIES | n/a |
GFS:P00518 | sodium channel, voltage-gated, type V, alpha subunit; Protien | Protien | n/a |