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Titin (TTN)
- Target
- TTN
- Molecular classification
- Other (giant cytoskeletal protein), Scaffold protein, Serine/threonine protein kinase domain (pseudokinase), Modular sarcomeric protein
01
Overview
Titin is the **largest known protein in humans**, encoded by the TTN gene and composed of approximately 34,000 amino acids with a molecular weight reaching up to ~3.8 megadaltons[2][6]. It spans half of a muscle sarcomere, tethering the Z-disc to the M-line, and acts as a **molecular spring** to provide passive elasticity and maintain the structural integrity of striated muscle[1][2][5][6]. Titin consists of a modular array of immunoglobulin-like and fibronectin type III domains with specialized elastic (PEVK) and kinase domains[1][6]. Genetic variants in TTN cause a range of **muscle diseases and cardiomyopathies**[2][5][6]. Its main function is structural and mechanical, not enzymatic or receptor-mediated, and **it is not a therapeutic drug target** but rather an important **biomarker and cause of genetic disease**[2][5][6].
- Other names
- ConnectinCMPD4FLJ32040TMDCMH9LGMD2JMYLK5Rhabdomyosarcoma antigen MU-RMS-40.14CMD1GCMYO5CMYP5EOMFCHMERFLGMDR10SALMY
02
Biological functions
Muscle elasticityMolecular springStructural scaffold in sarcomereSarcomere assemblyMechanosensingSignal transduction
03
Disease associations
Cardiomyopathy (especially dilated cardiomyopathy)Muscular dystrophy (various types: limb-girdle, tibial muscular dystrophy, hereditary myopathy with early respiratory failure)Heart failureOther myopathies
04
Safety considerations
Mutations cause variable, sometimes severe cardiac and muscular diseasesvery large gene makes genetic testing and interpretation challengingno known direct drug targetinghigh allelic variability can make genotype-phenotype correlations difficult
05
Biomarkers
TTN gene mutations (as biomarkers for inherited cardiomyopathy and certain muscular dystrophies)
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