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HPS1 Polyclonal Antibody
Purified Rabbit Polyclonal Antibody (Pab)
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- BACKGROUND
Application 
| IHC-P, IHC-F, IF, ICC, E |
|---|---|
| Primary Accession | Q92902 |
| Reactivity | Rat, Bovine |
| Host | Rabbit |
| Clonality | Polyclonal |
| Calculated MW | 79 KDa |
| Physical State | Liquid |
| Immunogen | KLH conjugated synthetic peptide derived from human HPS1 |
| Epitope Specificity | 501-600/700 |
| Isotype | IgG |
| Purity | affinity purified by Protein A |
| Buffer | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| DISEASE | Defects in HPS1 are the cause of Hermansky-Pudlak syndrome type 1 (HPS1) [MIM:203300]. Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. |
| Important Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| Background Descriptions | This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq, Jul 2008] |
| Gene ID | 3257 |
|---|---|
| Other Names | Hermansky-Pudlak syndrome 1 protein, HPS1, HPS |
| Target/Specificity | Ubiquitous. |
| Dilution | IHC-P=1:100-500,IHC-F=1:100-500,ICC=1:100-500,IF=1:100-500,ELISA=1:5000-10000 |
| Format | 0.01M TBS(pH7.4), 0.09% (W/V) sodium azide and 50% Glyce |
| Storage | Store at -20 ℃ for one year. Avoid repeated freeze/thaw cycles. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 ℃. |
| 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. |
Research Areas
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Application Protocols
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$ 385.00
Cat# AP56679
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