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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 |  ABIN1881114 |
1 references | Polyclonal |
WB
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| LSBio | LS-C833984 |
Polyclonal |
ICC
IHC
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| NovoPro Bioscience Inc. | 108454 |
Polyclonal |
EL
IHC
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| Proteintech Group | 25722-1-AP |
Polyclonal |
EL
IHC
|
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| Bethyl Laboratories | A304-612A |
Polyclonal |
WB
IP
|
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