This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| HPS1BA-20-REGO | 20 (40 μL) | 200 μL |
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| HPS1BA-20-REGR | 20 (40 μL) | 200 μL |
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| HPS1BA-20-ORGR | 20 (40 μL) | 200 μL |
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| HPS1BA-20-GOGR | 20 (40 μL) | 200 μL |
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| HPS1BA-20-GRRE | 20 (40 μL) | 200 μL |
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| HPS1BA-20-GROR | 20 (40 μL) | 200 μL |
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| HPS1BA-20-GRGO | 20 (40 μL) | 200 μL |
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| HPS1BA-20-AQOR | 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. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]
Gene Symbol : HPS1
Gene Name : HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
Chromosome : CHR 10: 984,469,62-984,150,67
Locus : 10q24.2
Alt. Genes : KIF20A
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