Nav1.2
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Navα1.2 که با نامِ کانال سدیم، با درگاه وابستهبه ولتاژ، نوع ۲، زیرواحد آلفا (انگلیسی: Sodium channel, voltage-gated, type II, alpha subunit) هم شناخته میشود، یک پروتئین است که در انسان توسط ژن «SCN2A» کُدگذاری میشود.[۵] کانالهای سدیمیِ کاروَر، دارای یک زیرواحد آلفای انتقالدهندهٔ یون و یک یا چند زیرواحد تنظیمکنندهٔ بتا هستند. کانالهای سدیمی که حاوی زیرواحد Navα1.2 باشند را کانالهای Nav1.2 مینامد.
جهش در این ژن در برخی مبتلایان اوتیسم،[۶] اسپاسم نوزادی و کاهش متابولیسم گلوکز در لبهای تمپورال دوطرف مغز دیده شدهاست.[۷]
منابع
- ↑ ۱٫۰ ۱٫۱ ۱٫۲ GRCh38: Ensembl release 89: ENSG00000136531 – Ensembl, May 2017
- ↑ ۲٫۰ ۲٫۱ ۲٫۲ GRCm38: Ensembl release 89: ENSMUSG00000075318 – 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.
- ↑ "Entrez Gene: SCN2A sodium channel, voltage-gated, type II, alpha subunit".
- ↑ Sanders SJ,, Stephan J.; Murtha MT; Gupta AR; Murdoch JR; Raubeson MJ; Willsey AJ; Ercan-Sencicek AG; et al. (2012). "De novo mutations revealed by whole-exome sequencing are strongly associated with autism". Nature. 485: 237–241. doi:10.1038/nature10945.
{{cite journal}}: نگهداری یادکرد:نقطهگذاری اضافی (رده) - ↑ Sundaram SK, Chugani HT, Tiwari VN, Huq AH (July 2013). "SCN2A Mutation Is Associated With Infantile Spasms and Bitemporal Glucose Hypometabolism". Pediatr. Neurol. 49 (1): 46–9. doi:10.1016/j.pediatrneurol.2013.03.002. PMC 3868437. PMID 23827426.
- مشارکتکنندگان ویکیپدیا. «Nav1.2». در دانشنامهٔ ویکیپدیای انگلیسی، بازبینیشده در ۲۰ ژانویه ۲۰۱۸.
بیشتر بخوانید
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- Litt M, Luty J, Kwak M, et al. (1989). "Localization of a human brain sodium channel gene (SCN2A) to chromosome 2". Genomics. 5 (2): 204–8. doi:10.1016/0888-7543(89)90047-5. PMID 2571571.
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- Sugawara T, Tsurubuchi Y, Agarwala KL, et al. (2001). "A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction". Proc. Natl. Acad. Sci. U.S.A. 98 (11): 6384–9. doi:10.1073/pnas.111065098. PMC 33477. PMID 11371648.
- Heron SE, Crossland KM, Andermann E, et al. (2002). "Sodium-channel defects in benign familial neonatal-infantile seizures". Lancet. 360 (9336): 851–2. doi:10.1016/S0140-6736(02)09968-3. PMID 12243921.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Weiss LA, Escayg A, Kearney JA, et al. (2003). "Sodium channels SCN1A, SCN2A and SCN3A in familial autism". Mol. Psychiatry. 8 (2): 186–94. doi:10.1038/sj.mp.4001241. PMID 12610651.
- Yu FH, Westenbroek RE, Silos-Santiago I, et al. (2003). "Sodium channel beta4, a new disulfide-linked auxiliary subunit with similarity to beta2". J. Neurosci. 23 (20): 7577–85. PMID 12930796.
- McEwen DP, Meadows LS, Chen C, et al. (2004). "Sodium channel beta1 subunit-mediated modulation of Nav1.2 currents and cell surface density is dependent on interactions with contactin and ankyrin". J. Biol. Chem. 279 (16): 16044–9. doi:10.1074/jbc.M400856200. PMID 14761957.
{{cite journal}}: نگهداری یادکرد:doi رایگان بینشان (رده) - Kamiya K, Kaneda M, Sugawara T, et al. (2004). "A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline". J. Neurosci. 24 (11): 2690–8. doi:10.1523/JNEUROSCI.3089-03.2004. PMID 15028761.
- Berkovic SF, Heron SE, Giordano L, et al. (2004). "Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy". Ann. Neurol. 55 (4): 550–7. doi:10.1002/ana.20029. PMID 15048894.
- Pereira S, Vieira JP, Barroca F, et al. (2004). "Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A". Neurology. 63 (1): 191–2. doi:10.1212/01.wnl.0000132844.20654.c1. PMID 15249644.
پیوند به بیرون
- SCN2A protein, human در سرعنوانهای موضوعی پزشکی (MeSH) در کتابخانهٔ ملی پزشکی ایالات متحدهٔ آمریکا
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