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人 RP1L1 (NM_178857) cDNA克隆
人 RP1L1 (NM_178857) cDNA克隆
  • 商品货号:FC169612
  • 已售 7 件 | 评价 0 人次 | 关注度 361
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    • accession:NM_178857
    • 基因别名:DCDC4B
    • 基因描述:Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.
    • 载体:现货载体
    • CDS区长度:7203
    • 翻译后氨基酸长度:2400
    • 基因简介:This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010]
    • 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