Tissue expression
Cell line expression
Protein structure
HPS1
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1BLOC3S1, HPS
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. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]
Top validated antibodies |
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| Proteintech Group | 4 references | Polyclonal |
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| FineTest Biotech | Polyclonal |
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| Biorbyt | Polyclonal |
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| antibodies-online | 5 references | Monoclonal |
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| Boster Biological Technology | Polyclonal |
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