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人ACE2(NM_021804)ORF克隆 CALU-3细胞 vero E6非洲绿猴肾细胞
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当前位置: 首页 > 质粒载体菌株 > cDNA克隆 > 人源 > 人 COL6A3 (NM_004369) cDNA克隆
人 COL6A3 (NM_004369) cDNA克隆
人 COL6A3 (NM_004369) cDNA克隆
  • 商品货号：FC132086
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    • accession：NM_004369
    • 基因别名：COL6A3
    • 基因描述：Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.
    • 载体：现货载体
    • CDS区长度：9534
    • 翻译后氨基酸长度：3177
    • TranscriptVariant：This variant (1) represents the longest transcript and encodes the full-length isoform (1).
    • 基因简介：This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]
    • 规格：10ul 质粒
    CDS区参考序列： 点击查看序列
    翻译后氨基酸参数序列： 点击查看序列
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