This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| BLOC1S5-20-RE | 20 (40 μL) | 200 μL |  |
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| BLOC1S5-20-OR | 20 (40 μL) | 200 μL |  |
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| BLOC1S5-20-GO | 20 (40 μL) | 200 μL |  |
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| BLOC1S5-20-GR | 20 (40 μL) | 200 μL |  |
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| BLOC1S5-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]
Gene Symbol : BLOC1S5
Gene Name : Biogenesis of lysosomal organelles complex 1 subunit 5
Chromosome : CHR 6: 806,441,3-801,356,6
Locus : 6p24.3
Alt. Genes : SGK2
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