BLOC1S3
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Loading...- Mouse Anti-BLOC1S3 Recombinant Antibody (BL748) (VS-0326-YC748)
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- Species Reactivity: Human
- Type: Mouse IgG1
- Application: IHC
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For Research Use Only. Not For Clinical Use.
Background
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]

