폴리시스틴 2
Polycystin 2
폴리시스틴-2는 PKD2 [5][6]유전자에 의해 인간에게 암호화되는 단백질이다.
이 유전자는 이전에 폴리시스틴-2, PC2 또는 APKD2로 알려진 TRPP2라고 불리는 폴리시스틴 단백질 패밀리의 멤버를 코드합니다.TRP2는 여러 개의 막 통과 도메인과 세포질 N- 및 C-termini를 포함합니다.단백질은 세포-세포-매트릭스 상호작용에 관여하는 일체형 막 단백질일 수 있다.TRPP2는 신관 발달, 형태학 및 기능에서 기능할 수 있으며 세포 내 칼슘 항상성 및 기타 신호 전달 경로를 변조할 수 있다.이 단백질은 폴리시스틴 1(TRP1)과 상호작용하여 양이온 투과성 전류를 생성한다.그것은 예일 대학의 Stefan Somlo에 의해 발견되었다.
임상적 의의
이 유전자의 돌연변이는 상염색체 우성 다낭포성 신장 [6]질환과 연관되어 왔다.
상호 작용
폴리시스틴 2는 TRPC1,[7] PKD1[7][8], TNNI3 [9]단백질과 상호작용하는 것으로 나타났다.
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레퍼런스
- ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000118762 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000034462 - 앙상블, 2017년 5월
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- ^ Li, Qiang; Shen Patrick Y; Wu Guanqing; Chen Xing-Zhen (January 2003). "Polycystin-2 interacts with troponin I, an angiogenesis inhibitor". Biochemistry. United States. 42 (2): 450–7. doi:10.1021/bi0267792. ISSN 0006-2960. PMID 12525172.
추가 정보
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외부 링크
- 다낭포성 신장질환에 대한 Gen Reviews/NIH/NCBI/UW 엔트리, 상염색체 우성
- "Transient Receptor Potential Channels: TRPP1". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology.
