Recombinant Human Niemann Pick C2 protein (ab153100)

Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      GQSYSVNVTFTSNIQSKSSKAVVHGILMGVPVPFPIPEPDGCKSGINCPI QKDKTYSYLNKLPVKSEYPSIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL
    • Amino acids
      52 to 151
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab153100 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

    ELISA

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • 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: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • EDDM1
    • Epididymal protein 1
    • Epididymal secretory protein
    • Epididymal secretory protein E1
    • hE1
    • Human epididymis-specific protein 1
    • Niemann-Pick disease type C2
    • Niemann-Pick disease type C2 protein
    • NPC intracellular cholesterol transporter 2
    • NPC2
    • NPC2_HUMAN
    • Tissue specific secretory protein
    see all
  • Function
    May be involved in the regulation of the lipid composition of sperm membranes during the maturation in the epididymis.
  • Tissue specificity
    Epididymis.
  • Involvement in disease
    Defects in NPC2 are the cause of Niemann-Pick disease type C2 (NPDC2) [MIM:607625]. 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 C2 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.
  • Sequence similarities
    Belongs to the NPC2 family.
  • Cellular localization
    Secreted.
  • Information by UniProt

Images

  • ab153100 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab153100 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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