This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| HPS4-20-RE | 20 (40 μL) | 200 μL |  |
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| HPS4-20-OR | 20 (40 μL) | 200 μL |  |
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| HPS4-20-GO | 20 (40 μL) | 200 μL |  |
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| HPS4-20-GR | 20 (40 μL) | 200 μL |  |
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| HPS4-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Gene Symbol : HPS4
Gene Name : HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
Chromosome : CHR 22: 264,838,62-264,436,12
Locus : 22q12.1
Alt. Genes : ZNF263
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