TTN

This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a;N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions;of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and;lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin;repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line;and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin;also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of;contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes.;Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the;I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in;elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types.;Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are;produced in patients with the autoimmune disease scleroderma.

TTN; titin; cardiomyopathy, dilated 1G (autosomal dominant) , CMD1G; CMH9; CMPD4; FLJ32040; LGMD2J; MYLK5; TMD; connectin; rhabdomyosarcoma antigen MU-RMS-40.14; CMD1G; EOMFC; HMERF; FLJ26020; FLJ26409; FLJ34413; FLJ39564; FLJ43066; DKFZp451N061;