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.
Applications:Suitable for use in Western Blot, aNot DeterminedImmunofluorescence.
Other applications not tested.
Recommended Dilutions:Western Blot: 1:500-1:2000Immunofluorescence: 1:50-1:200Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：50ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid PBS, 0.09% sodium azide, 50% glycerol.
Specificity：Recognizes endogenous levels of DTNBP1. Species Crossreactivity: mouse
Isotype：IgG
Calc Applications Abbrev：IF WB
Calc Crossreactivity：Hu Mo
Immunogen：Recombinant full length protein corresponding to human DTNBP1.
