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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| BLOC1S3-20-RE | 20 (40 μL) | 200 μL |  |
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| BLOC1S3-20-OR | 20 (40 μL) | 200 μL |  |
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| BLOC1S3-20-GO | 20 (40 μL) | 200 μL |  |
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| BLOC1S3-20-GR | 20 (40 μL) | 200 μL |  |
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| BLOC1S3-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : BLOC1S3
Gene Name : Biogenesis of lysosomal organelles complex 1 subunit 3
Chromosome : CHR 19: 451,787,44-452,027,14
Locus : 19q13.32
Alt. Genes : ATP6AP2
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