This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| HPS3-20-RE | 20 (40 μL) | 200 μL |  |
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| HPS3-20-OR | 20 (40 μL) | 200 μL |  |
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| HPS3-20-GO | 20 (40 μL) | 200 μL |  |
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| HPS3-20-GR | 20 (40 μL) | 200 μL |  |
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| HPS3-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]
Gene Symbol : HPS3
Gene Name : HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
Chromosome : CHR 3: 149,129,583-149,173,195
Locus : 3q24
Alt. Genes : LRPPRC
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