| Function
Telethonin is found in muscle cells and binds titin Z1-Z2 domains. It is essential to sarcomer assembly[1]. It is called titin cap protein. See also Group:MUZIC:Telethonin.
Disease
Mutations in telethonin lead to heart maladptation to biomechanical stress[2].
- ↑ Faulkner G, Lanfranchi G, Valle G. Telethonin and other new proteins of the Z-disc of skeletal muscle. IUBMB Life. 2001 May;51(5):275-82. PMID:11699871 doi:10.1080/152165401317190761
- ↑ Knoll R, Linke WA, Zou P, Miocic S, Kostin S, Buyandelger B, Ku CH, Neef S, Bug M, Schafer K, Knoll G, Felkin LE, Wessels J, Toischer K, Hagn F, Kessler H, Didie M, Quentin T, Maier LS, Teucher N, Unsold B, Schmidt A, Birks EJ, Gunkel S, Lang P, Granzier H, Zimmermann WH, Field LJ, Faulkner G, Dobbelstein M, Barton PJ, Sattler M, Wilmanns M, Chien KR. Telethonin deficiency is associated with maladaptation to biomechanical stress in the mammalian heart. Circ Res. 2011 Sep 16;109(7):758-69. doi: 10.1161/CIRCRESAHA.111.245787. Epub, 2011 Jul 28. PMID:21799151 doi:https://dx.doi.org/10.1161/CIRCRESAHA.111.245787
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3D Structures of Telethonin
titin, 1ya5 - telethonin+ hTTN residues 1-196 - human
References
