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.[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)
نگارخانه بانک داده پروتئین | |
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