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人NPC1(NM_000271)ORF克隆
人NPC1(NM_000271)ORF克隆
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  • 商品货号:F152995
  • accession:NM_000271
  • 基因别名:NPC1
  • 基因描述:Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.
  • 载体:现货载体
  • CDS区长度:3837
  • 翻译后氨基酸长度:1278
  • 基因简介:This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]
  • 载体信息:自有图片地址
  • 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