Overview

  • Product name

    Recombinant Human Niemann Pick C2 protein
  • Protein length

    Full length protein

Description

  • Nature

    Recombinant
  • Source

    HEK 293 cells
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      EPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKS SKAVVHGILM GVPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKSEYPSIKLVVEWQ LQDDKNQSLF CWEIPVQIVSHL
    • Molecular weight

      17 kDa including tags
    • Amino acids

      20 to 151
    • Tags

      His tag C-Terminus
    • Additional sequence information

      Full length protein without signal peptide

Specifications

Our Abpromise guarantee covers the use of ab200499 in the following tested applications.

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

  • Applications

    SDS-PAGE

  • Endotoxin level

    < 1.000 Eu/µg
  • Purity

    > 95 % SDS-PAGE.

  • Form

    Lyophilised
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.

    pH: 7.4
    Constituents: 95% PBS, 5% Trehalose

  • Reconstitution
    It is recommended to reconstitute the lyophilized product in 100 µL sterile deionized water to a final concentration of 1 mg/ml. Solubilize for 30 to 60 minutes at room temperature with occasional gentle mixing.

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

  • SDS-PAGE using ab200499 

References

ab200499 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

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