Nav1.5

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The correct title of this article is Nav1.5. It features superscript or subscript characters that are substituted or omitted because of technical limitations.
Sodium channel, voltage-gated, type V, alpha subunit
PDB rendering based on 1byy.
Available structures: 1byy
Identifiers
Symbols SCN5A; HB1; HB2; CDCD2; CMD1E; CMPD2; HH1; IVF; LQT3; Nav1.5; SSS1
External IDs OMIM: 600163 MGI: 98251 HomoloGene: 22738
Orthologs
Human Mouse
Entrez 6331 20271
Ensembl n/a ENSMUSG00000032511
Refseq XM_001131636 (mRNA)
XP_001131636 (protein)		 NM_021544 (mRNA)
NP_067519 (protein)
Location n/a Chr 9: 119.33 - 119.43 Mb
Pubmed search [1] [2]

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]

Contents

See also

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. 

External links

 This membrane protein-related article is a stub. You can help Wikipedia by expanding it.
v • d • e
Membrane transport protein: ion channels
Ca2+: Calcium channel
L-type/Cavα (1.1, 1.2, 1.3, 1.4) • N-type/Cavα2.2 • P-type/Cavα(2.1) • Q-type/Cavα2.1 • R-type/Cavα2.3 • T-type/Cavα(3.2)
α2δ-subunits (1, 2) • β-subunits (β1, β2, β3, β4) • γ-subunits (γ1, γ2, γ3, γ4)
Cation channels of sperm • Two-pore channel (1, 2)
Ligand-gated
Na+: Sodium channel
Navα (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.8, 1.9, 7A) • Navβ (1, 2, 3, 4)
Other
K+: Potassium channel
Kvα (1-6) (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.10, 2.1, 2.2, 3.1, 3.2, 3.3, 3.4, 4.1, 4.2, 4.3, 5.1, 6.1, 6.2, 6.3, 6.4)
Kvα (7-12) (7.1, 7.2, 7.3, 7.4, 7.5, 8.1, 8.2, 9.1, 9.2, 9.3, 10.1, 10.2, 11.1/hERG, 11.2, 11.3, 12.1, 12.2, 12.3)
Kvβ (1, 2, 3) • KCNIP (1, 2, 3, 4) • minK/ISK • MiRP (1, 2, 3) • Shaker gene
Kir (1.1, 2.1, 2.2, 2.3, 2.4) • GIRK/Kir (3.1, 3.2, 3.3, 3.4) • Kir (4.1, 4.2, 5.1, 6.1, 6.2, 7.1)
K2P (1, 2, 3, 4, 5, 6, 7, 9, 10, 12, 13, 15, 16, 17, 18)
M+: TRP cation channel
TRPA (1) • TRPC (1, 2, 3, 4, 4AP, 5, 6, 7) • TRPM (1, 2, 3, 4, 5, 6, 7, 8) • TRPML (1, 2, 3) • TRPP (1, 2) • TRPV (1, 2, 3, 4, 5, 6)
Cl-: Chloride channel
CFTR • CLCA (1, 2, 3, 4) • CLCN (1, 2, 3, 4, 5, 6, 7, KA, KB) • CLIC (1, 2, 3, 4, 5, 6, L1) • CLNS (1A, 1B)
Cyclic nucleotide-gated
α1, α2, α3, α4, β1, β3, H1, H2, H3, H4
Porin
Other/general

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  • This page was last modified on 22 August 2008, at 05:01.

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