Hermansky-Pudlak syndrome is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding, and pulmonary fibrosis result from defects of melanosomes, platelet dense granules, and lysosomes.
Mutations in this gene as well as several others can cause this syndrome.HPS4 appears to be important in organelle biogenesis and is similar to the mouse 'light ear' protein.
Five transcript variants encoding different isoforms have been found for this gene.
In addition, transcript variants utilizing alternative polyadenylation signals exist.In addition to their identical phenotypes, le and ep mutant mice have identical abnormalities of melanosomes, and in transfected melanoma cells, the HPS4 and HPS1 proteins partially colocalize in vesicles of the cell body.
Applications:Suitable for use in ELISA, Western Blot, Immunohistochemistry, Immunocytochemistry.
Other applications not tested.
Recommended Dilution:Western Blot: 1:50-400Immunocytochemistry: 1:50-500Immunohistochemistry (frozen): 1:50-500Immunohistochemistry (paraffin): 1:10-100ELISA: 1:100-1:5000Optimal 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：200ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.4, 0.02% sodium azide, 50% glycerol.
Specificity：Recognizes human HPS4.
Isotype：IgG
Calc Applications Abbrev：E IC IHC WB
Calc Crossreactivity：Hu
Immunogen：Recombinant protein corresponding to Ser6-Gly192 of human HPS4, fused to His-Tag and T7-tag at N-terminal expressed in E. coli.
