Home > A. Molecular pathology > titin
titin
MIM.188840
Friday 14 November 2003
The central sarcomeric protein titin is encoded by the gene TTN at 2q31.
Functions
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
References
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