SCN5A

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Sodium channel, voltage-gated, type V, alpha subunit
PBB Protein SCN5A image.jpg
PDB rendering based on 1byy.
Identifiers
Symbols SCN5A ; HB1; HB2; CDCD2; CMD1E; CMPD2; HH1; IVF; LQT3; Nav1.5; SSS1
External IDs OMIM: 600163 MGI98251 HomoloGene22738
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 6331
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 20271

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| na
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSMUSG00000032511

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | XM_001131636 (mRNA)
XP_001131636 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |NM_021544 (mRNA)
NP_067519 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| na
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 9: 119.33 -  119.43 Mb 

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

WikiDoc Resources for SCN5A

Articles

Most recent articles on SCN5A

Most cited articles on SCN5A

Review articles on SCN5A

Articles on SCN5A in N Eng J Med, Lancet, BMJ

Media

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Evidence Based Medicine

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Clinical Trials

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Trial results on SCN5A

Clinical Trials on SCN5A at Google

Guidelines / Policies / Govt

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NICE Guidance on SCN5A

NHS PRODIGY Guidance

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CDC on SCN5A

Books

Books on SCN5A

News

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Commentary

Blogs on SCN5A

Definitions

Definitions of SCN5A

Patient Resources / Community

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Discussion groups on SCN5A

Patient Handouts on SCN5A

Directions to Hospitals Treating SCN5A

Risk calculators and risk factors for SCN5A

Healthcare Provider Resources

Symptoms of SCN5A

Causes & Risk Factors for SCN5A

Diagnostic studies for SCN5A

Treatment of SCN5A

Continuing Medical Education (CME)

CME Programs on SCN5A

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Experimental / Informatics

List of terms related to SCN5A

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3]


The Nav1.5 sodium ion channel protein is encoded by the SCN5A gene. Mutations in the gene are associated with long QT syndrome type 3 (LQT3), Brugada syndrome, and idiopathic ventricular fibrillation.

The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. The encoded 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 two transcript variants encoding separate isoforms which differ by a single amino acid. Mutation nomenclature has been assigned with respect to the longer isoform.[1]

References

  1. "Entrez Gene: SCN5A sodium channel, voltage-gated, type V, alpha subunit".

Further reading

  • Viswanathan PC, Balser JR (2004). "Inherited sodium channelopathies: a continuum of channel dysfunction". Trends Cardiovasc. Med. 14 (1): 28–35. PMID 14720472.
  • Catterall WA, Goldin AL, Waxman SG (2006). "International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels". Pharmacol. Rev. 57 (4): 397–409. doi:10.1124/pr.57.4.4. PMID 16382098.
  • Wolf CM, Berul CI (2006). "Inherited conduction system abnormalities--one group of diseases, many genes". J. Cardiovasc. Electrophysiol. 17 (4): 446–55. doi:10.1111/j.1540-8167.2006.00427.x. PMID 16643374.




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