Na_v1.4

SCN4A
معین‌کننده‌ها
نام‌های دیگر	SCN4A, CMS16, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1, sodium voltage-gated channel alpha subunit 4
شناسه‌های بیرونی	OMIM: 603967 MGI: 98250 HomoloGene: 283 GeneCards: SCN4A
موقعیت ژن (موش)
کروموزوم	کروموزوم ۱۱ (موش)
پایان	106,244,114 bp
الگوی گسترش RNA
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• ion channel activity; • sodium channel activity; • voltage-gated ion channel activity; • voltage-gated sodium channel activity;
ترکیبات سلولی	• voltage-gated sodium channel complex; • integral component of membrane; • integral component of plasma membrane; • membrane; • پوسته یاخته; • آسه;
فرایند زیستی	• regulation of ion transmembrane transport; • ion transmembrane transport; • کشش ماهیچه; • membrane depolarization during action potential; • ion transport; • neuronal action potential; • transmembrane transport; • sodium ion transport; • sodium ion transmembrane transport;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	6329
	110880
	ENSG00000007314
	ENSMUSG00000001027
	P35499
	Q9ER60
	NM_000334
	XM_006531987، XM_036156229 NM_133199، XM_006531987، XM_036156229
	NP_000325
	XP_006532050، XP_036012122، NP_001390570 NP_573462، XP_006532050، XP_036012122، NP_001390570
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

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.^[۴]^[۵]^[۶]^[۷]

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

↑ ^۱٫۰ ^۱٫۱ ^۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000001027 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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.
↑ 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.
↑ "Entrez Gene: SCN4A sodium channel, voltage-gated, type IV, alpha subunit".

مشارکت‌کنندگان ویکی‌پدیا. «Nav1.4». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۷ ژوئن ۲۰۱۸.

بیشتر بخوانید

Ackerman MJ, Clapham DE (1997). "Ion channels--basic science and clinical disease". N. Engl. J. Med. 336 (22): 1575–86. doi:10.1056/NEJM199705293362207. PMID 9164815.
Wang JZ; Rojas CV; Zhou JH; et al. (1992). "Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q". Biochem. Biophys. Res. Commun. 182 (2): 794–801. doi:10.1016/0006-291X(92)91802-W. PMID 1310396. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Ptacek LJ; Tawil R; Griggs RC; et al. (1992). "Linkage of atypical myotonia congenita to a sodium channel locus". Neurology. 42 (2): 431–3. doi:10.1212/wnl.42.2.431. PMID 1310531. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
McClatchey AI; Van den Bergh P; Pericak-Vance MA; et al. (1992). "Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita". Cell. 68 (4): 769–74. doi:10.1016/0092-8674(92)90151-2. PMID 1310898. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
George AL, Komisarof J, Kallen RG, Barchi RL (1992). "Primary structure of the adult human skeletal muscle voltage-dependent sodium channel". Ann. Neurol. 31 (2): 131–7. doi:10.1002/ana.410310203. PMID 1315496.
Ptácek LJ; George AL; Barchi RL; et al. (1992). "Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita". Neuron. 8 (5): 891–7. doi:10.1016/0896-6273(92)90203-P. PMID 1316765. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
McClatchey AI; McKenna-Yasek D; Cros D; et al. (1993). "Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel". Nat. Genet. 2 (2): 148–52. doi:10.1038/ng1092-148. PMID 1338909. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Rojas CV; Wang JZ; Schwartz LS; et al. (1992). "A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis". Nature. 354 (6352): 387–9. doi:10.1038/354387a0. PMID 1659668. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Plassart E; Reboul J; Rime CS; et al. (1994). "Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations". Eur. J. Hum. Genet. 2 (2): 110–24. PMID 8044656. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Ptáĉek LJ; Tawil R; Griggs RC; et al. (1994). "Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis". Neurology. 44 (8): 1500–3. doi:10.1212/wnl.44.8.1500. PMID 8058156. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
George AL; Iyer GS; Kleinfield R; et al. (1993). "Genomic organization of the human skeletal muscle sodium channel gene". Genomics. 15 (3): 598–606. doi:10.1006/geno.1993.1113. PMID 8385647. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Ptacek LJ; Gouw L; Kwieciński H; et al. (1993). "Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis". Ann. Neurol. 33 (3): 300–7. doi:10.1002/ana.410330312. PMID 8388676. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)

این یک مقالهٔ خرد زیست‌شناسی مولکولی است. می‌توانید با گسترش آن به ویکی‌پدیا کمک کنید.

[refGRCm38Ensembl-1] ۱٫۰ ^۱٫۱ ^۱٫۲ 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.

[pmid1654742-4] 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.

[pmid1659948-5] 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.

[pmid16382098-6] 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.

[entrez-7] "Entrez Gene: SCN4A sodium channel, voltage-gated, type IV, alpha subunit".

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