Recombinant Human Niemann Pick C1 protein (ab114306)

Overview

  • Product nameRecombinant Human Niemann Pick C1 protein
  • Protein lengthProtein fragment

Description

  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • AccessionO15118
    • SpeciesHuman
    • SequenceGFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQ APFTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSCQDCSIVCGPK
    • Molecular weight37 kDa including tags
    • Amino acids151 to 250

Associated products

Specifications

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.

  • Applications

    Western blot

    SDS-PAGE

    ELISA

  • FormLiquid
  • Additional notesProtein 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...

Preparation and Storage

  • Stability and Storage

    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

General Info

  • Alternative names
    • Niemann Pick C1 protein precursor
    • Niemann Pick disease, type C1
    • Niemann-Pick C1 protein
    • NPC
    • NPC1
    • NPC1_HUMAN
    see all
  • FunctionInvolved 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.
  • Involvement in diseaseDefects 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.
  • Sequence similaritiesBelongs to the patched family.
    Contains 1 SSD (sterol-sensing) domain.
  • DomainA 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.
  • Post-translational
    modifications
    Glycosylated.
  • Cellular localizationLate endosome membrane. Lysosome membrane.
  • Information by UniProt

Recombinant Human Niemann Pick C1 protein images

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

References for Recombinant Human Niemann Pick C1 protein (ab114306)

ab114306 has not yet been referenced specifically in any publications.

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