|Positive WB detected in||Jurkat cells, K-562 cells, A375 cells, HeLa cells|
|Positive IP detected in||Hela cells, IP result of anti-HPS4 (14267-1-AP for IP and Detection) with HeLa cell lysate.|
|Positive IHC detected in||human liver tissue|
Note: suggested antigen retrieval with TE buffer pH 9.0; (*) Alternatively, antigen retrieval may be performed with citrate buffer pH 6.0
|Positive IF detected in||HepG2 cells|
|Western Blot (WB)||WB : 1:500-1:1000|
|Immunoprecipitation (IP)||IP : 0.5-4.0 ug for IP and 1:500-1:1000 for WB|
|Immunohistochemistry (IHC)||IHC : 1:50-1:500|
|Immunofluorescence (IF)||IF : 1:10-1:100|
|Sample-dependent, check data in validation data gallery|
14627-1-AP targets HPS4 in WB, IP, IHC, IF, ELISA applications and shows reactivity with human samples.
|Cited Reactivity||human, mouse|
|Host / Isotype||Rabbit / IgG|
|Immunogen||HPS4 fusion protein Ag6202|
|Full Name||Hermansky-Pudlak syndrome 4|
|Calculated molecular weight||77 kDa|
|Observed molecular weight||70 kDa and 90 kDa|
|GenBank accession number||BC065030|
|Gene ID (NCBI)||89781|
|Purification Method||Antigen affinity purification|
|Storage Buffer||PBS with 0.02% sodium azide and 50% glycerol pH 7.3.|
|Storage Conditions||Store at -20°C. Stable for one year after shipment. Aliquoting is unnecessary for -20oC storage.|
Hermansky-Pudlak syndrome (HPS) is a genetic disease 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. HPS1 and HPS4 are the most frequently mutated genes associated with HPS in humans. Both of HPS1 and HPS4 are components of two complexes involved in biogenesis of melanosome and lysosome-related organelles: BLOC-3 and BLOC-4. HPS4 is supposed to interact with HPS1 and stabilize HPS1. The human HPS4 migrates at about 90 kDa on SDS-PAGE, versus its predicated molecular mass of 77 kDa.
Am J Respir Cell Mol Biol
Gene-edited MLE-15 Cells as a Model for the Hermansky Pudlak Syndromes.
Mol Genet Metab
In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.