Description
Product Characteristics:
Aliases: MPRM antibody, Cardiomyopathy dilated 1G (autosomal dominant) antibody, CMD1G antibody, CMH 9 antibody, CMH9 antibody, CMPD 4 antibody, CMPD4 antibody, Connectin antibody, DKFZp451N061 antibody, EOMFC antibody, FLJ26020 antibody, FLJ26409 antibody, FLJ32040 antibody, FLJ34413 antibody, FLJ39564 antibody, FLJ43066 antibody, HMERF antibody, LGMD2J antibody, MU RMS 40.14 antibody, MYLK5 antibody, Rhabdomyosarcoma antigen antibody, Rhabdomyosarcoma antigen MU RMS 40.14 antibody, Rhabdomyosarcoma antigen MU-RMS-40.14 antibody, Titin antibody, TITIN_HUMAN antibody, TMD antibody, TTN antibody
Target Information: 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. [provided by RefSeq, Feb 2012]