Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous, autosomal recessive disorder. It is characterized by oculocutaneous albinism, lysosomal storage defects and prolonged bleeding due to platelet storage pool deficiency. HPS is a result of defects in various cytoplasmic organelles such as melanosomes, platelet dense granules and lysosomes. The HPS proteins, including HPS-1-6 and Dysbindin (also designated HPS-7), all interact within three distinct, ubiquitously expressed protein complexes or biogenesis of lysosome-related organelle complexes. Defects in the genes encoding for these proteins are the cause of HPS. Dysbindin binds to dystrobrevins in the dystrophin-associated protein complex (DPC) complex. Dysbindin is a cytoplasmic protein. Isoforms 1 and 2 are the result of alternative splicing.
Key Feature
Clonality
Polyclonal
Isotype
IgG
Host Species
Rabbit
Tested Applications
WBIPIFELISA
recommended for detection of Dysbindin isoforms 1 and 2 of mouse, rat and human origin by WB, IP, IF and ELISA also reactive with additional species, including bovine and porcine
Species Reactivity
HumanMouseRat
Concentration
1mg/ml
Purification
Affinity purified
Target Information
Alternative Names
epitope corresponding to amino acids 1-90 mapping at the N-terminus of Dysbindin of human origin
Tissue Specificity
epitope corresponding to amino acids 1-90 mapping at the N-terminus of Dysbindin of human origin
Western blot analysis of Dysbindin expression in Hep G2 whole cell lysate.
Application
Western blot analysis of Dysbindin expression in 293T whole cell lysate.
Application Notes
recommended for detection of Dysbindin isoforms 1 and 2 of mouse, rat and human origin by WB, IP, IF and ELISA also reactive with additional species, including bovine and porcine
Additional Information
Form
Liquid
Storage Instructions
For short-term storage, store at 4° C. For long-term storage, aliquot and store at -20ºC or below. Avoid multiple freeze-thaw cycles.