나트륨 채널, 전압 게이트, 타입 III, 알파 서브 유닛 (SCN3A )은 인간에서 Nav1. 3 유전자 에 의해 인코딩 되는 단백질이다.[5]
함수 전압 게이트 나트륨 채널은 24개의 트랜섬브레인 도메인과 하나 이상의 규제 베타 서브유닛을 가진 대형 알파 서브유닛으로 구성된 트랜섬브레인 당단백질 복합체다. 그들은 뉴런과 근육에서 작용 전위 의 생성과 전파를 담당한다. 이 유전자는 나트륨 채널 알파 서브유닛 유전자 계열의 1개 멤버를 인코딩하며, 2번 염색체의 5개 알파 서브유닛 유전자의 군집 안에서 발견된다. 이 유전자에 대해 서로 다른 ISO 양식을 인코딩하는 다중 대본 변형이 발견되었다.[5]
SCN3A는 '기리피케이션 '이라 불리는 과정인 인간 대뇌피질 을 접는 데 관여하며 음성 생성 뇌 영역에 영향을 미친다.[6]
참고 항목 참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000153253 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000057182 - 앙상블 , 2017년 5월^ "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 .^ a b "Entrez Gene: SCN3A sodium channel, voltage-gated, type III, alpha subunit" .^ Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, et al. (September 2018). "Sodium Channel SCN3A (NaV 1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development" . Neuron . 99 (5): 905–913.e7. doi :10.1016/j.neuron.2018.07.052 . PMC 6226006 PMID 30146301 . 추가 읽기 Catterall WA, Goldin AL, Waxman SG (December 2005). "International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels". Pharmacological Reviews . 57 (4): 397–409. doi :10.1124/pr.57.4.4 . 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Kasai N, Fukushima K, Ueki Y, Prasad S, Nosakowski J, Sugata K, Sugata A, Nishizaki K, Meyer NC, Smith RJ (February 2001). "Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus". Gene . 264 (1): 113–22. doi :10.1016/S0378-1119(00)00594-1 . PMID 11245985 . Whitaker WR, Faull RL, Dragunow M, Mee EW, Emson PC, Clare JJ (2001). "Changes in the mRNAs encoding voltage-gated sodium channel types II and III in human epileptic hippocampus". Neuroscience . 106 (2): 275–85. doi :10.1016/S0306-4522(01)00212-3 . PMID 11566500 . S2CID 26385238 . Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH (February 2003). "Sodium channels SCN1A, SCN2A and SCN3A in familial autism" . Molecular Psychiatry . 8 (2): 186–94. doi :10.1038/sj.mp.4001241 PMID 12610651 . Shah BS, Rush AM, Liu S, Tyrrell L, Black JA, Dib-Hajj SD, Waxman SG (August 2004). "Contactin associates with sodium channel Nav1.3 in native tissues and increases channel density at the cell surface" . The Journal of Neuroscience . 24 (33): 7387–99. doi :10.1523/JNEUROSCI.0322-04.2004 PMC 6729770 PMID 15317864 . Thimmapaya R, Neelands T, Niforatos W, Davis-Taber RA, Choi W, Putman CB, Kroeger PE, Packer J, Gopalakrishnan M, Faltynek CR, Surowy CS, Scott VE (July 2005). "Distribution and functional characterization of human Nav1.3 splice variants". The European Journal of Neuroscience . 22 (1): 1–9. doi :10.1111/j.1460-9568.2005.04155.x . PMID 16029190 . S2CID 30185095 . Platoshyn O, Remillard CV, Fantozzi I, Sison T, Yuan JX (November 2005). "Identification of functional voltage-gated Na(+) channels in cultured human pulmonary artery smooth muscle cells" . Pflügers Archiv . 451 (2): 380–387. doi :10.1007/s00424-005-1478-3 . PMC 1351366 PMID 16052353 . Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes" . Genome Research . 16 (1): 55–65. doi :10.1101/gr.4039406 . PMC 1356129 PMID 16344560 . Martin MS, Tang B, Ta N, Escayg A (August 2007). "Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences" . Genomics . 90 (2): 225–35. doi :10.1016/j.ygeno.2007.04.006 . PMC 2637551 PMID 17544618 .
외부 링크
PDB 갤러리
1byy : 나트륨 채널 IIA 비활성화 게이트
이 기사는 공공영역 에 있는 미국 국립 의학 도서관 의 텍스트를 통합하고 있다.
