GJA5
GJA5
갭 접합 알파-5 단백질(GJA5)은 코넥신 40(Cx40)으로도 알려져 있으며, 사람에게서 GJA5 유전자에 의해 암호화되는 단백질이다.
기능.
이 유전자는 코넥신 유전자의 일원이다.암호화된 단백질은 세포에서 세포로 저분자량 물질의 확산을 위한 경로를 제공하는 세포 간 채널의 배열로 구성된 갭 접합의 구성요소입니다.이 유전자의 돌연변이는 심방세동과 관련이 있을 수 있다.또, 같은 isoform을 코드하는 스플라이스 된 전사 변종이 [5]기술되고 있다.
GJA5는 1q21.1 위치에서 선천성 심장질환으로 관찰된 표현형을 담당하는 유전자로 확인되었다.Fallot의 GJA5 4중첩이 더 흔하다.결손의 경우 Fallot의 4중성 질환보다 다른 선천성 심장 질환이 더 [6]흔하다.
관련 유전자 문제
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레퍼런스
- ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000265107 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000057123 - 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.
- ^ "Entrez Gene: GJA5 gap junction protein, alpha 5, 40kDa".
- ^ Soemedi, R.; et al. (2011). "DPhenotype-Specific Effect of Chromosome 1q21.1 Rearrangements and GJA5 Duplications in 2436 Congenital Heart Disease Patients and 6760 Controls". Hum. Mol. Genet. 21 (7): 1513–1520. doi:10.1093/hmg/ddr589. PMC 3298277. PMID 22199024.
추가 정보
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