BLOC1S3 / Unconjugated /
Product Details
Description | BLOC1S3 antibody - C-terminal region | |
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Conjugate | Unconjugated | |
Clone | ||
Target Species | Human | |
Applications | WB | |
Supplier | Aviva Systems Biology | |
Catalog # | Sign in to view product details, citations, and spectra | |
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Antigen | ||
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About BLOC1S3
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]
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]
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