Tissue expression
Cell line expression
Protein structure
HPS4
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2BLOC3S2, KIAA1667, LE
This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Top validated antibodies |
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| Proteintech Group | 4 references | Polyclonal |
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| Invitrogen Antibodies | Polyclonal |
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| NovoPro Bioscience Inc. | Polyclonal |
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| FineTest Biotech | Polyclonal |
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| Biorbyt | Polyclonal |
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