- Human pathology

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Friday 14 November 2003

The central sarcomeric protein titin is encoded by the gene TTN at 2q31.


- complexes associated with the myofibrillar protein titin sense myocyte stretch.

Pathology (titinopathy)

- mutations in the tibial muscular dystrophy (MIM.600334) (12145747)
- mutations in dilated cardiomyopathy


- Miller MK, Granzier H, Ehler E, Gregorio CC. The sensitive giant: the role of titin-based stretch sensing complexes in the heart. Trends Cell Biol. 2004 Mar;14(3):119-26. PMID: 15003620

- Hein S, Schaper J. Weakness of a giant: mutations of the sarcomeric protein titin. Trends Mol Med. 2002 Jul;8(7):311-3. PMID: 12114104