Sodium channel subunit beta-3 는 인간에서 SCN3B 유전자 에 의해 암호화된 단백질 이다.[5] [6] 동일한 단백질을 인코딩하는 두 개의 다른 분할 변형이 확인되었다.
함수 전압 게이트 나트륨 채널은 대형 알파 서브유닛과 하나 이상의 규제 베타 서브유닛으로 구성된 트랜섬브레인 당단백질 복합체다. 그들은 뉴런과 근육에서 작용 전위 의 생성과 전파를 담당한다. 이 유전자는 나트륨 채널 베타 서브유닛 유전자 계열의 한 멤버를 암호화하고 나트륨 채널의 불활성화 운동학에 영향을 미친다.[6]
임상적 유의성 유전자의 돌연변이는 비정상적인 심장 전기생리학과 관련이 있다.[7] [8]
참고 항목 참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000166257 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000049281 - 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 .^ Morgan K, Stevens EB, Shah B, Cox PJ, Dixon AK, Lee K, Pinnock RD, Hughes J, Richardson PJ, Mizuguchi K, Jackson AP (Apr 2000). "β3: An additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics" . Proc Natl Acad Sci U S A . 97 (5): 2308–13. Bibcode :2000PNAS...97.2308M . doi :10.1073/pnas.030362197 PMC 15797 PMID 10688874 . ^ a b "Entrez Gene: SCN3B sodium channel, voltage-gated, type III, beta" .^ Hakim P, Gurung IS, Pedersen TH, Thresher R, Brice N, Lawrence J, Grace AA, Huang CL (2008). "Scn3b knockout mice exhibit abnormal ventricular electrophysiological properties" . Prog. Biophys. Mol. Biol . 98 (2–3): 251–66. doi :10.1016/j.pbiomolbio.2009.01.005 . PMC 2764399 PMID 19351516 . ^ Hakim P, Brice N, Thresher R, Lawrence J, Zhang Y, Jackson AP, Grace AA, Huang CL (January 2010). "Scn3b knockout mice exhibit abnormal sino-atrial and cardiac conduction properties" . Acta Physiol (Oxf) . 198 (1): 47–59. doi :10.1111/j.1748-1716.2009.02048.x . PMC 3763209 PMID 19796257 .
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