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BLOC1S3 Blocking Peptide (C-term)
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
| Primary Accession | Q6QNY0 |
|---|---|
| Other Accession | NP_997715.1 |
| Gene ID | 388552 |
|---|---|
| Other Names | Biogenesis of lysosome-related organelles complex 1 subunit 3, BLOC-1 subunit 3, BLOC1S3, BLOS3 |
| Target/Specificity | The synthetic peptide sequence is selected from aa 191-202 of HUMAN BLOC1S3 |
| Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
| 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. |
| Name | BLOC1S3 |
|---|---|
| Synonyms | BLOS3 |
| Function | Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking. |
| Cellular Location | Cytoplasm. |
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Provided below are standard protocols that you may find useful for product applications.
Background
This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism.
References
Seshadri, S., et al. JAMA 303(18):1832-1840(2010)
Lowe, J.K., et al. PLoS Genet. 5 (2), E1000365 (2009) :
Olsen, J.V., et al. Cell 127(3):635-648(2006)
Morgan, N.V., et al. Am. J. Hum. Genet. 78(1):160-166(2006)
Starcevic, M., et al. J. Biol. Chem. 279(27):28393-28401(2004)
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