Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MFYVAEPKQVPHILCSPSMKNINPLTAMSYLRKLDTSGFSSILVTLTKAA VALKMGDLDMHRNEMKSHSEMKLVCGFILEPRLLIQQRKGQIVPTELALH LKETQPGLLVASVLGLQKNNKIGIEEADSFFKVLCAKDEDTIPQLLVDFW EAQLVACLPDVVLQELFFKLTSQYIWRLSKRQPPDTTPLRTSEDLINACS HYGLIYPWVHVVISSDSLADKNYTEDLSKLQSLICGPSFDIASIIPFLEP LSEDTIAGLSVHVLCRTRLKEYEQCIDILLERCPEAVIPYANHELKEENR TLWWKKLLPELCQRIKCGGEKYQLYLSSLKETLSIVAVELELKDFMNVLP EDGTATFFLPYLLYCSRKKPLT
    • Amino acids
      1 to 372
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab164580 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
    • BLOC2S1
    • Cocoa
    • DKFZp686F0413
    • FLJ22704
    • Hermansky Pudlak syndrome 3
    • Hermansky Pudlak syndrome 3 protein
    • HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
    • SUTAL
    see all
  • Relevance
    HPS3 is involved in early stages of melanosome biogenesis and maturation. Defects in HPS3 are the cause of the cocoa (coa) mutant, and of Hermansky-Pudlak syndrome type 3 (HPS3). HPS3 is an 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
    Cytoplasmic

Images

  • ab164580 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab164580 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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