Nav1.9
| View/Edit Human | View/Edit Mouse |
Sodium channel, voltage-gated, type XI, alpha subunit also known as SCN11A or Nav1.9 is a voltage-gated sodium ion channel protein which in humans is encoded by the SCN11A gene.[3][4]
Function
Voltage-gated sodium channels are membrane protein complexes that play a fundamental role in the rising phase of the action potential in most excitable cells. Alpha subunits, such as SCN11A, mediate voltage-dependent gating and conductance, while auxiliary beta subunits regulate the kinetic properties of the channel and facilitate membrane localization of the complex. Aberrant expression patterns or mutations of alpha subunits underlie a number of disorders. Each alpha subunit consists of 4 domains connected by 3 intracellular loops; each domain consists of 6 transmembrane segments and intra- and extracellular linkers.[5]
Clinical significance
Mutations in this gene have been associated to loss of pain perception.[6]
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ Dib-Hajj S, Black JA, Cummins TR, Waxman SG (2002). "NaN/Nav1.9: a sodium channel with unique properties". Trends Neurosci. 25 (5): 253–9. doi:10.1016/S0166-2236(02)02150-1. PMID 11972962.
- ↑ Dib-Hajj SD, Tyrrell L, Waxman SG (2002). "Structure of the sodium channel gene SCN11A: evidence for intron-to-exon conversion model and implications for gene evolution". Mol. Neurobiol. 26 (2–3): 235–50. doi:10.1385/MN:26:2-3:235. PMID 12428758.
- ↑ "Entrez Gene: Sodium channel, voltage-gated, type XI, alpha subunit".
- ↑ Leipold E; Liebmann L; Korenke GC; Heinrich T; Gie?elmann S; Baets J; Ebbinghaus M; Goral RO; St?dberg T; Hennings JC; Bergmann M; Altm?ller J; Thiele H; Wetzel A; N?rnberg P; Timmerman V; De Jonghe P; Blum R; Schaible HG; Weis J; Heinemann SH; H?bner CA; Kurth I (September 2013). "A de novo gain-of-function mutation in SCN11A causes loss of pain perception". Nat. Genet. 45 (11): 1399–404. doi:10.1038/ng.2767. PMID 24036948.
Further reading
- Delmas P, Coste B (2003). "Na+ channel Nav1.9: in search of a gating mechanism". Trends Neurosci. 26 (2): 55–7. doi:10.1016/S0166-2236(02)00030-9. PMID 12536125.
- Blum R, Kafitz KW, Konnerth A (2002). "Neurotrophin-evoked depolarization requires the sodium channel Na(V)1.9". Nature. 419 (6908): 687–93. doi:10.1038/nature01085. PMID 12384689.
- Raymond CK, Castle J, Garrett-Engele P, et al. (2004). "Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia". J. Biol. Chem. 279 (44): 46234–41. doi:10.1074/jbc.M406387200. PMID 15302875.
- Dib-Hajj SD, Tyrrell L, Escayg A, et al. (1999). "Coding sequence, genomic organization, and conserved chromosomal localization of the mouse gene Scn11a encoding the sodium channel NaN". Genomics. 59 (3): 309–18. doi:10.1006/geno.1999.5890. PMID 10444332.
- Dib-Hajj SD, Tyrrell L, Cummins TR, et al. (1999). "Two tetrodotoxin-resistant sodium channels in human dorsal root ganglion neurons". FEBS Lett. 462 (1–2): 117–20. doi:10.1016/S0014-5793(99)01519-7. PMID 10580103.
- Jeong SY, Goto J, Hashida H, et al. (2000). "Identification of a novel human voltage-gated sodium channel alpha subunit gene, SCN12A". Biochem. Biophys. Res. Commun. 267 (1): 262–70. doi:10.1006/bbrc.1999.1916. PMID 10623608.
- Goldin AL, Barchi RL, Caldwell JH, et al. (2000). "Nomenclature of voltage-gated sodium channels". Neuron. 28 (2): 365–8. doi:10.1016/S0896-6273(00)00116-1. PMID 11144347.
- Catterall WA, Goldin AL, Waxman SG (2005). "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.
External links
- SCN11A protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.