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人 DMD (NM_004006) cDNA克隆
人 DMD (NM_004006) cDNA克隆
  • 商品货号:FC109105
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    • accession:NM_004006
    • 基因别名:DMD
    • 基因描述:Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.
    • 载体:现货载体
    • CDS区长度:11058(基因较长不太稳定 可能存在突变)
    • 翻译后氨基酸长度:3685
    • TranscriptVariant:transcript Dp427m encodes the main dystrophin protein found in muscle. As a result of alternative promoter use, exon 1 encodes a unique N-terminal MLWWEEVEDCY aa sequence.
    • 基因简介:The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq, Jul 2008]
    • 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