Tissue expression
Cell line expression
Protein structure
BLOC1S3
Biogenesis of lysosomal organelles complex 1 subunit 3BLOS3, HPS8
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. [provided by RefSeq, Jul 2008]
Top validated antibodies |
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antibodies-online | ![]() |
1 references | Polyclonal |
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LSBio | ![]() |
Polyclonal |
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NovoPro Bioscience Inc. | ![]() |
Polyclonal |
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Proteintech Group | ![]() |
Polyclonal |
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Bethyl Laboratories | ![]() |
Polyclonal |
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