| Entrez gene ID | | 3257 |
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| Official gene symbol | | HPS1 |
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| Full name | | Hermansky-Pudlak syndrome 1 |
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| Aliases | | ,HPS,MGC5277, |
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| Gene summary | | 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 a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet. [provided by RefSeq] |
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| Location | | Chromosome: 10 Locus: 10q23.1-q23.3 |
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| Gene position | | 100206704 - 100175956 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 30749 bp |
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| Gene sequence |
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| OMIM ID | | 604982 |
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