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人 NIPBL (NM_133433) cDNA克隆
人 NIPBL (NM_133433) cDNA克隆
  • 商品货号:FC107154
  • 已售 1 件 | 评价 0 人次 | 关注度 255
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    • accession:NM_133433
    • 基因别名:NIPBL
    • 基因描述:Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.
    • 载体:现货载体
    • CDS区长度:8415
    • 翻译后氨基酸长度:2804
    • TranscriptVariant:This variant (A) encodes the longer isoform (A).
    • 基因简介:This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [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