|Application ||WB, E|
|Other Accession||NP_115759, 84343|
|Predicted||Mouse, Rat, Pig, Cow|
|Calculated MW||113736 Da|
|Other Names||Hermansky-Pudlak syndrome 3 protein, HPS3|
|Format||0.5 mg IgG/ml in Tris saline (20mM Tris pH7.3, 150mM NaCl), 0.02% sodium azide, with 0.5% bovine serum albumin|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||Goat Anti-HPS3 / Cocoa Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||Involved in early stages of melanosome biogenesis and maturation.|
|Tissue Location||Widely expressed. Higher levels of expression are observed in kidney, liver and placenta|
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Provided below are standard protocols that you may find useful for product applications.
This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined.
Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico. Torres-Serrant M, et al. J Pediatr Hematol Oncol, 2010 Aug. PMID 20562649.
Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. Huizing M, et al. Platelets, 2007 Mar. PMID 17365864.
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. Santiago Borrero PJ, et al. J Invest Dermatol, 2006 Jan. PMID 16417222.
Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin. Helip-Wooley A, et al. BMC Cell Biol, 2005 Sep 13. PMID 16159387.
Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. Boissy RE, et al. Am J Pathol, 2005 Jan. PMID 15632015.
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