Recombinant Human Niemann Pick C1 protein (ab114306)

製品の概要

  • 製品名Recombinant Human Niemann Pick C1 protein
  • タンパク質長Protein fragment

製品の詳細

  • 由来Recombinant
  • 由来Wheat germ
  • アミノ酸配列
    • アクセッション番号O15118
    • 生物種Human
    • 配列GFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQ APFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSCQDCSIVCGPK
    • 分子量37 kDa including tags
    • 領域151 to 250

関連製品

特性

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.

  • アプリケーション

    Western blot

    SDS-PAGE

    ELISA

  • 製品の状態Liquid
  • 備考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...

前処理および保存

  • 保存方法および安定性

    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

関連情報

  • 別名
    • Niemann Pick C1 protein precursor
    • Niemann Pick disease, type C1
    • Niemann-Pick C1 protein
    • NPC
    • NPC1
    • NPC1_HUMAN
    see all
  • 機能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.
  • 関連疾患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.
  • 配列類似性Belongs to the patched family.
    Contains 1 SSD (sterol-sensing) domain.
  • ドメイン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.
  • 翻訳後修飾Glycosylated.
  • 細胞内局在Late endosome membrane. Lysosome membrane.
  • Information by UniProt

Recombinant Human Niemann Pick C1 protein 画像

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

Recombinant Human Niemann Pick C1 protein (ab114306) 使用論文

ab114306 has not yet been referenced specifically in any publications.

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