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HPS1 Antibody (N-term) Blocking peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
| Primary Accession | Q92902 |
|---|---|
| Other Accession | NP_872577.1, NP_000186.2 |
| Clone Names | 90723189 |
| Gene ID | 3257 |
|---|---|
| Other Names | Hermansky-Pudlak syndrome 1 protein, HPS1, HPS |
| 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 | HPS1 |
|---|---|
| Synonyms | HPS |
| Function | Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991). |
| Tissue Location | Ubiquitous. |
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Provided below are standard protocols that you may find useful for product applications.
Background
This gene encodes a protein that may play a role inorganelle biogenesis associated with melanosomes, platelet densegranules, and lysosomes. The encoded protein is a component ofthree different protein complexes termed biogenesis oflysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5.Mutations in this gene are associated with Hermansky-Pudlaksyndrome type 1. Multiple transcript variants encoding distinctisoforms have been identified for this gene; the full-lengthsequences of some of these have not been determined yet. [providedby RefSeq].
References
Sandrock, K., et al. Klin Padiatr 222(3):168-174(2010)Kloer, D.P., et al. J. Biol. Chem. 285(10):7794-7804(2010)Wei, A., et al. J. Invest. Dermatol. 130(3):716-724(2010)Wei, A., et al. J. Dermatol. Sci. 56(2):130-132(2009)Fernandez, L.P., et al. Exp. Dermatol. 18(7):634-642(2009)
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