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 part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| AP3B1-20-RE | 20 (40 μL) | 200 μL |  |
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| AP3B1-20-OR | 20 (40 μL) | 200 μL |  |
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| AP3B1-20-GO | 20 (40 μL) | 200 μL |  |
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| AP3B1-20-GR | 20 (40 μL) | 200 μL |  |
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| AP3B1-20-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. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
Gene Symbol : AP3B1
Gene Name : Adaptor related protein complex 3 beta 1 subunit
Chromosome : CHR 5: 782,947,54-780,023,25
Locus : 5q14.1
Alt. Genes : OPTN
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