| Entrez gene ID | | 388552 |
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| Official gene symbol | | BLOC1S3 |
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| Full name | | biogenesis of lysosomal organelles complex-1, subunit 3 |
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| Aliases | | ,BLOS3,FLJ26641,FLJ26676,HPS8,RP, |
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| Gene summary | | This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq] |
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| Location | | Chromosome: 19 Locus: 19q13.32 |
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| Gene position | | 45682003 - 45685058 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 3056 bp |
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| Gene sequence |
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| OMIM ID | | 609762 |
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