This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| HPS5-20-RE | 20 (40 μL) | 200 μL |  |
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| HPS5-20-OR | 20 (40 μL) | 200 μL |  |
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| HPS5-20-GO | 20 (40 μL) | 200 μL |  |
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| HPS5-20-GR | 20 (40 μL) | 200 μL |  |
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| HPS5-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Gene Symbol : HPS5
Gene Name : HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
Chromosome : CHR 11: 183,224,97-182,786,69
Locus : 11p15.1
Alt. Genes : HIPK3
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