Overview

  • Product name
    Recombinant Human HPS6 protein
  • Protein length
    Protein fragment

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      KDLVFEEACGYYQRRSLRGAQLTPEELRHSSTFRAPQALASILQGHLPPS ALLTMLRTELRDYRGLEQLKAQLVAGDDEEAGWTELAEQEVARLLRTELI G
    • Amino acids
      400 to 500
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab164119 in the following tested applications.

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

  • Applications

    ELISA

    Western blot

  • 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
    • BLOC2S3
    • FLJ22501
    • Hermansky Pudlak syndrome 6 protein
    • Hermansky-Pudlak syndrome 6 protein
    • HPS6
    • HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
    • HPS6_HUMAN
    • MGC20522
    • Ru
    • Ruby eye protein homolog
    • Ruby-eye protein homolog
    see all
  • Function
    May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules.
  • Tissue specificity
    Ubiquitous.
  • Involvement in disease
    Defects in HPS6 are the cause of Hermansky-Pudlak syndrome type 6 (HPS6) [MIM:614075]. Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
  • Cellular localization
    Microsome membrane. Cytoplasm > cytosol. Early endosome membrane.
  • Information by UniProt

Images

  • ab164119 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab164119 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

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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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