肌联蛋白(英語:titin,源自古希臘神話中的泰坦,形容其結構的巨大程度[2]。又稱 connectin),又稱肌巨蛋白,是人体中是由肌联蛋白基因(TTN)编码的蛋白质。[3][4]肌联蛋白是已知最巨大的蛋白质,为肌肉收缩的弹性元件。它由244个结构域以及之间的肽序列连接组成。[5]这些结构域在蛋白拉伸时去折叠,而在张力去除后重新折叠。[6]
肌联蛋白是已知最大的蛋白质[7],同时肌联蛋白基因也拥有已知的单基因中最多的外显子(363个)。[8]
肌联蛋白对横纹肌的收缩很重要,它横跨肌节从Z线到M线的区域,同粗肌丝的装配和位置固定有关。在这个基因的突变能引起肌肉疾病,例如肢带型肌营养不良。[9]
- ^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Wang K, McClure J, Tu A. Titin: major myofibrillar components of striated muscle. Proceedings of the National Academy of Sciences of the United States of America. August 1979, 76 (8): 3698–702. Bibcode:1979PNAS...76.3698W. PMC 383900
. PMID 291034. doi:10.1073/pnas.76.8.3698
. - ^ Entrez Gene: TTN titin. (原始内容存档于2010-03-07).
- ^ Labeit S, Barlow DP, Gautel M, Gibson T, Holt J, Hsieh CL, Francke U, Leonard K, Wardale J, Whiting A. A regular pattern of two types of 100-residue motif in the sequence of titin. Nature. May 1990, 345 (6272): 273–6. PMID 2129545. doi:10.1038/345273a0.
- ^ Labeit S, Kolmerer B. Titins: giant proteins in charge of muscle ultrastructure and elasticity. Science. October 1995, 270 (5234): 293–6. PMID 7569978. doi:10.1126/science.270.5234.293.
- ^ Minajeva A, Kulke M, Fernandez JM, Linke WA. Unfolding of titin domains explains the viscoelastic behavior of skeletal myofibrils. Biophys. J. March 2001, 80 (3): 1442–51. PMC 1301335
. PMID 11222304. doi:10.1016/S0006-3495(01)76116-4. - ^ Opitz CA, Kulke M, Leake MC, Neagoe C, Hinssen H, Hajjar RJ, Linke WA. Damped elastic recoil of the titin spring in myofibrils of human myocardium. Proc. Natl. Acad. Sci. U.S.A. October 2003, 100 (22): 12688–93. PMC 240679
. PMID 14563922. doi:10.1073/pnas.2133733100. - ^ Bang ML, Centner T, Fornoff F, Geach AJ, Gotthardt M, McNabb M, Witt CC, Labeit D, Gregorio CC, Granzier H, Labeit S. The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system. Circ. Res. November 2001, 89 (11): 1065–72. PMID 11717165. doi:10.1161/hh2301.100981.
- ^ Finsterer J. Klinik und Genetik der Gliedergürteldystrophien. Nervenarzt. December, 75 (12): 1153–66. doi:10.1007/s00115-004-1769-5.