• 靶点：
• TTN

• 简介：
• >>Hypertrophic cardiomyopathy;>>Dilated cardiomyopathy

• 基因名称：
• TTN

• 蛋白名称：
• Titin (EC 2.7.11.1) (Connectin) (Rhabdomyosarcoma antigen MU-RMS-40.14)

• Human Gene Id：
• 7273

• Human Swiss Prot No：
• Q8WZ42

• Mouse Swiss Prot No：
• A2ASS6

• 免疫原：
• Synthetic peptide from human protein at AA range: 161-210

• 特异性：
• The antibody detects endogenous TTN

• 组成：
• Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

• 来源：
• Polyclonal, Rabbit,IgG

• 稀释：
• IHC 1:50-200, ELISA 1:10000-20000. IF 1:50-200

• 纯化工艺：
• The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

• 浓度：
• 1 mg/ml

• 储存：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• 其他名称：
• Titin (EC 2.7.11.1;Connectin;Rhabdomyosarcoma antigen MU-RMS-40.14)

• 背景：
• 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.

• 功能：
• alternative products:A number of isoforms may be produced, ranging from 27000 to 33000 residues in different striated muscle tissues, the size of the full length protein may be up to 38138 residues,catalytic activity:ATP + a protein = ADP + a phosphoprotein.,cofactor:Magnesium.,disease:Defects in TTN are the cause of cardiomyopathy dilated type 1G (CMD1G) [MIM:604145]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.,disease:Defects in TTN are the cause of cardiomyopathy familial hypertrophic type 9 (CMH9) [MIM:188840]. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, synco

• 细胞定位：
• Cytoplasm . Nucleus .

• 组织表达：
• Isoforms 3, 7 and 8 are expressed in cardiac muscle. Isoform 4 is expressed in vertebrate skeletal muscle. Isoform 6 is expressed in skeletal muscle (at protein level).

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