호모 사피엔스 종의 단백질 코드 유전자
미오신결합단백질 C, fast type은 MYBPC2유전자 에 [5] 단백질 이다.
기능. 이 유전자는 미오신 결합 단백질 C 패밀리의 일원을 암호화한다. 이 패밀리는 고속, 저속 및 심장형 아이소폼을 포함하며, 각 아이소폼은 줄무늬근육의 A밴드 교차교 지지대(C영역)에서 발견되는 미오신 관련 단백질이다. 이 궤적에 의해 코드된 단백질을 고속형 아이소폼이라고 합니다. 느린 타입과 심장 타입의 등형을 코드하는 관련성이 있지만 별개의 유전자의 돌연변이는 각각 [5] 관절형증 , 타입 1 및 비대성 심근증 과 관련되어 있다.
레퍼런스 추가 정보 Luther PK, Bennett PM, Knupp C, Craig R, Padrón R, Harris SP, Patel J, Moss RL (Dec 2008). "Understanding the organisation and role of myosin binding protein C in normal striated muscle by comparison with MyBP-C knockout cardiac muscle" . Journal of Molecular Biology . 384 (1): 60–72. doi :10.1016/j.jmb.2008.09.013 . PMC 2593797 PMID 18817784 . Hitomi N, Kubo T, Kitaoka H, Hirota T, Hamada T, Hoshikawa E, Hayato K, Okawa M, Kimura A, Doi YL (Sep 2010). "A frameshift deletion mutation in the cardiac myosin-binding protein C gene associated with dilated phase of hypertrophic cardiomyopathy and dilated cardiomyopathy" . Journal of Cardiology . 56 (2): 189–96. doi :10.1016/j.jjcc.2010.04.003 PMID 20605413 . Flashman E, Korkie L, Watkins H, Redwood C, Moolman-Smook JC (Feb 2008). "Support for a trimeric collar of myosin binding protein C in cardiac and fast skeletal muscle, but not in slow skeletal muscle" . FEBS Letters . 582 (3): 434–8. doi :10.1016/j.febslet.2008.01.004 PMID 18201573 . S2CID 40828345 . Moolman-Smook J, Flashman E, de Lange W, Li Z, Corfield V, Redwood C, Watkins H (Oct 2002). "Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations" . Circulation Research . 91 (8): 704–11. doi :10.1161/01.res.0000036750.81083.83 PMID 12386147 . Weber FE, Vaughan KT, Reinach FC, Fischman DA (Sep 1993). "Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment" . European Journal of Biochemistry . 216 (2): 661–9. doi :10.1111/j.1432-1033.1993.tb18186.x PMID 8375400 . Guardiani C, Cecconi F, Livi R (Mar 2008). "Computational analysis of folding and mutation properties of C5 domain of myosin binding protein C". Proteins . 70 (4): 1313–22. arXiv :0712.1554 doi :10.1002/prot.21621 . PMID 17876814 . S2CID 2685944 . Meurs KM, Kuan M (Mar 2011). "Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene". Environmental and Molecular Mutagenesis . 52 (2): 161–4. doi :10.1002/em.20596 . PMID 20740642 . S2CID 20916169 . Welikson RE, Fischman DA (Sep 2002). "The C-terminal IgI domains of myosin-binding proteins C and H (MyBP-C and MyBP-H) are both necessary and sufficient for the intracellular crosslinking of sarcomeric myosin in transfected non-muscle cells" . Journal of Cell Science . 115 (Pt 17): 3517–26. doi :10.1242/jcs.115.17.3517 PMID 12154082 . Alyonycheva TN, Mikawa T, Reinach FC, Fischman DA (Aug 1997). "Isoform-specific interaction of the myosin-binding proteins (MyBPs) with skeletal and cardiac myosin is a property of the C-terminal immunoglobulin domain" . The Journal of Biological Chemistry . 272 (33): 20866–72. doi :10.1074/jbc.272.33.20866 PMID 9252413 . 이 기사에는 미국 국립 의학 도서관 (미국 국립 의학 도서관 )의 공공 도메인 텍스트가 포함되어 있습니다.
