|Other Names||Hermansky-Pudlak syndrome 5 protein, Alpha-integrin-binding protein 63, Ruby-eye protein 2 homolog, Ru2, HPS5, AIBP63, KIAA1017|
|Target/Specificity||The synthetic peptide sequence is selected from aa 103-116 of HUMAN HPS5|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins.|
|Cellular Location||Cytoplasm, cytosol|
|Tissue Location||Widely expressed. Isoform 1:Highly expressed in lungs and testis. Isoform 2:Highly expressed in placenta, kidney, testis ovary, lung and thymus|
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Provided below are standard protocols that you may find useful for product applications.
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene.
Helip-Wooley, A., et al. J. Invest. Dermatol. 127(6):1471-1478(2007)
Matsuoka, S., et al. Science 316(5828):1160-1166(2007)
Huizing, M., et al. Platelets 18(2):150-157(2007)
Huizing, M., et al. Traffic 5(9):711-722(2004)
Di Pietro, S.M., et al. Traffic 5(4):276-283(2004)
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