FKBP1B
FKBP1B
펩티딜-프롤릴시스-트랜스 이성질화효소 FKBP1B는 FKBP1B [5][6]유전자에 의해 인체 내에서 코드되는 효소이다.
기능.
이 유전자에 의해 코드된 단백질은 면역 조절과 단백질 접힘과 밀매를 수반하는 기본적인 세포 과정에 역할을 하는 면역필린 단백질 패밀리의 구성원이다.이 암호화된 단백질은 면역억제제 FK506(타크로리머스)과 라파마이신(시롤리머스)을 결합하는 시스-트랜스 프로릴 이성질체이다.FK506 결합 단백질 1A와 매우 유사하다.심근의 들뜸-수축 결합에서 생리학적 역할을 하는 것으로 생각된다.이 유전자의 서로 다른 [6]동질 형태를 코드하는 두 가지 대체 스플라이스된 전사 변형이 있다.
임상적 의의
FKB1B와 리아노딘 수용체 사이의 결함 상호작용은 카테콜아민 작동성 다형성 [7]심실 빈맥을 가진 사람들에게 나타나는 부정맥의 기초가 되는 잠재적 메커니즘으로 생각된다.
레퍼런스
- ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000119782 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000020635 - 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.
- ^ Arakawa H, Nagase H, Hayashi N, Fujiwara T, Ogawa M, Shin S, Nakamura Y (April 1994). "Molecular cloning and expression of a novel human gene that is highly homologous to human FK506-binding protein 12kDa (hFKBP-12) and characterization of two alternatively spliced transcripts". Biochemical and Biophysical Research Communications. 200 (2): 836–43. doi:10.1006/bbrc.1994.1527. PMID 7513996.
- ^ a b "Entrez Gene: FKBP1B FK506 binding protein 1B, 12.6 kDa".
- ^ Venetucci, Luigi; Denegri, Marco; Napolitano, Carlo; Priori, Silvia G. (October 2012). "Inherited calcium channelopathies in the pathophysiology of arrhythmias". Nature Reviews. Cardiology. 9 (10): 561–575. doi:10.1038/nrcardio.2012.93. ISSN 1759-5010. PMID 22733215. S2CID 24883043.
추가 정보
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