Recombinant人Niemann Pick C1 protein (ab114306)

概述

  • 产品名称Recombinant人Niemann Pick C1 protein
  • 蛋白长度Protein fragment

描述

  • 性质Recombinant
  • 来源Wheat germ
  • 氨基酸序列
    • AccessionO15118
    • 种属Human
    • 序列GFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQ APFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSCQDCSIVCGPK
    • 分子量37 kDa including tags
    • 氨基酸151 to 250

相关产品

技术指标

Our Abpromise guarantee covers the use of ab114306 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • 应用

    Western blot

    SDS-PAGE

    ELISA

  • 形式Liquid
  • 补充说明Protein concentration is above or equal to 0.05 mg/ml.
    This protein is best used within three months from the date of receipt.
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

常规信息

  • 别名
    • Niemann Pick C1 protein precursor
    • Niemann Pick disease, type C1
    • Niemann-Pick C1 protein
    • NPC
    • NPC1
    • NPC1_HUMAN
    see all
  • 功能Involved in the intracellular trafficking of cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals.
  • 疾病相关Defects in NPC1 are the cause of Niemann-Pick disease type C1 (NPDC1) [MIM:257220]. A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C1 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected.
  • 序列相似性Belongs to the patched family.
    Contains 1 SSD (sterol-sensing) domain.
  • 结构域A cysteine-rich N-terminal domain and a C-terminal domain containing a di-leucine motif necessary for lysosomal targeting are critical for mobilization of cholesterol from lysosomes.
  • 翻译后修饰Glycosylated.
  • 细胞定位Late endosome membrane. Lysosome membrane.
  • Information by UniProt

Recombinant Human Niemann Pick C1 protein 图像

  • 12.5% SDS-PAGE image showing ab114306 Stained with Coomassie Blue.

Recombinant Human Niemann Pick C1 protein (ab114306)参考文献

ab114306 has not yet been referenced specifically in any publications.

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