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Goat Anti-HPS3 / Cocoa Antibody
Peptide-affinity purified goat antibody
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application 
| WB, E |
|---|---|
| Primary Accession | Q969F9 |
| Other Accession | NP_115759, 84343 |
| Reactivity | Human |
| Predicted | Mouse, Rat, Pig, Cow |
| Host | Goat |
| Clonality | Polyclonal |
| Concentration | 100ug/200ul |
| Isotype | IgG |
| Calculated MW | 113736 Da |
| Gene ID | 84343 |
|---|---|
| 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. |
| Name | HPS3 |
|---|---|
| Function | Involved in early stages of melanosome biogenesis and maturation. |
| Cellular Location | Cytoplasm {ECO:0000250|UniProtKB:Q91VB4}. Cytoplasm, cytosol |
| 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.
Background
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.
References
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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