Recombinant Human HPS2 protein (ab127282)
Key features and details
- Expression system: Escherichia coli
- Purity: > 95% SDS-PAGE
- Tags: His-DHFR tag N-Terminus
- Suitable for: SDS-PAGE
Description
-
Product name
Recombinant Human HPS2 protein -
Purity
> 95 % SDS-PAGE.
Purified via His tag -
Expression system
Escherichia coli -
Accession
-
Protein length
Protein fragment -
Animal free
No -
Nature
Recombinant -
-
Species
Human -
Predicted molecular weight
16 kDa -
Amino acids
944 to 1094 -
Tags
His-DHFR tag N-Terminus
-
Associated products
-
Related Products
Specifications
Our Abpromise guarantee covers the use of ab127282 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
-
Form
Lyophilized -
Concentration information loading...
Preparation and Storage
-
Stability and Storage
Shipped at 4°C. Store at -20ºC.
Constituents: 0.32% Tris HCl, 0.58% Sodium chloride
-
ReconstitutionReconstitute with water to desired concentration.
General Info
-
Alternative names
- Adapter related protein complex 3 beta 1 subunit
- Adapter-related protein complex 3 subunit beta-1
- Adaptor protein complex AP-3 subunit beta-1
see all -
Function
Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. -
Tissue specificity
Ubiquitously expressed. -
Involvement in disease
Defects in AP3B1 are the cause of Hermansky-Pudlak syndrome type 2 (HPS2) [MIM:608233]. 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. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections. -
Sequence similarities
Belongs to the adaptor complexes large subunit family. -
Post-translational
modificationsPhosphorylated on serine residues. -
Cellular localization
Golgi apparatus. Cytoplasmic vesicle > clathrin-coated vesicle membrane. Golgi apparatus. Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. - Information by UniProt
Protocols
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
Datasheets and documents
-
Datasheet download
References (0)
ab127282 has not yet been referenced specifically in any publications.