Nav1.4

Nav1.4 که با نامِ کانال سدیم نوع ۴، زیرواحد آلفا (انگلیسی: Sodium channel protein type 4 subunit alpha‎) هم شناخته می‌شود، یک پروتئین است که در انسان توسط ژن «SCN4A» کُدگذاری می‌شود.[4][5][6][7]

SCN4A
معین‌کننده‌ها
نام‌های دیگرSCN4A, CMS16, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1, sodium voltage-gated channel alpha subunit 4
شناسه‌های بیرونیOMIM: 603967 MGI: 98250 HomoloGene: 283 GeneCards: SCN4A
الگوی گسترش RNA
More reference expression data
هم‌ساخت‌شناسی
گونه‌هاانسانموش
Entrez

6329

110880

آنسامبل

ENSG00000007314

ENSMUSG00000001027

یونی‌پروت

P35499

Q9ER60

RefSeq (mRNA)

NM_000334

XM_006531987، XM_030245472 NM_133199، XM_006531987، XM_030245472

RefSeq (پروتئین)

NP_000325

XP_006532050، XP_036012122 NP_573462، XP_006532050، XP_036012122

موقعیت (UCSC)n/aChr : 106.32 – 106.35 Mb
جستجوی PubMed[2][3]
ویکی‌داده
مشاهده/ویرایش HumanView/Edit Mouse

اهمیت بالینی

این مجرا، نوعی کانال یونی با درگاه وابسته‌به ولتاژ است که جهش در آن، با بروز اختلالاتی نظیر «فلج دوره‌ای هیپوکالمیک»، «فلج دوره‌ای هیپرکالمیک» و «پارامیوتونی مادرزادی» و «میوتونی بدترشونده با پتاسیم» در ارتباط است.

منابع
  1. GRCm38: Ensembl release 89: ENSMUSG00000001027 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. Ptacek LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M (Oct 1991). "Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus". Am J Hum Genet. 49 (4): 851–4. PMC 1683172. PMID 1654742.
  5. Ptacek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF (Jan 1992). "Identification of a mutation in the gene causing hyperkalemic periodic paralysis". Cell. 67 (5): 1021–7. doi:10.1016/0092-8674(91)90374-8. PMID 1659948.
  6. Catterall WA, Goldin AL, Waxman SG (Dec 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.
  7. "Entrez Gene: SCN4A sodium channel, voltage-gated, type IV, alpha subunit".

بیشتر بخوانید
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  • McClatchey AI, Lin CS, Wang J, et al. (1993). "The genomic structure of the human skeletal muscle sodium channel gene". Hum. Mol. Genet. 1 (7): 521–7. doi:10.1093/hmg/1.7.521. PMID 1339144.
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  • George AL, Ledbetter DH, Kallen RG, Barchi RL (1991). "Assignment of a human skeletal muscle sodium channel alpha-subunit gene (SCN4A) to 17q23.1-25.3". Genomics. 9 (3): 555–6. doi:10.1016/0888-7543(91)90425-E. PMID 1851726.
  • Fontaine B, Khurana TS, Hoffman EP, et al. (1990). "Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene". Science. 250 (4983): 1000–2. doi:10.1126/science.2173143. PMID 2173143.
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  • Heine R, Pika U, Lehmann-Horn F (1993). "A novel SCN4A mutation causing myotonia aggravated by cold and potassium". Hum. Mol. Genet. 2 (9): 1349–53. doi:10.1093/hmg/2.9.1349. PMID 8242056.
  • Lerche H, Heine R, Pika U, et al. (1994). "Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker". J. Physiol. 470: 13–22. doi:10.1113/jphysiol.1993.sp019843. PMC 1143902. PMID 8308722.
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