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人 PKD1 (NM_000296) cDNA克隆
人 PKD1 (NM_000296) cDNA克隆
  • 商品货号:FC156344
  • 已售 3 件 | 评价 0 人次 | 关注度 249
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    • accession:NM_000296
    • 基因别名:PKD1
    • 基因描述:Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 2, mRNA.
    • 载体:现货载体
    • CDS区长度:12909
    • 翻译后氨基酸长度:4302
    • TranscriptVariant:This variant (2) uses an alternate acceptor splice site, 3 nt downstream of that used by transcript variant 1, at the junction of one of the coding exons. This results in an isoform (2) that is 1 aa shorter than isoform 1.
    • 基因简介:This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 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