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人 TTN (NM_001267550) cDNA克隆
人 TTN (NM_001267550) cDNA克隆
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  • 商品货号:G172521
  • accession:NM_001267550
  • 基因别名:TTN
  • 基因描述:Homo sapiens titin (TTN), transcript variant IC, mRNA.
  • 载体:现货载体
  • CDS区长度:107976
  • 翻译后氨基酸长度:35991
  • TranscriptVariant:This variant (IC) represents an inferred complete model that includes all possible supported in-frame coding exons. The exons included in this inferred variant are supported by the original sequence analysis and publication (PMID:11717165), available cDNA and EST data, and additional sequence analysis of the repetitive exons. This transcript is the longest which represents a 363-exon model with a predicted protein (isoform IC) length of 35,991 amino acids.
  • 基因简介: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]
  • 规格:10ul 质粒
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