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HPS / HPS1 is 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.
Gene Name: | Hermansky-Pudlak syndrome 1 |
Synonyms: | HPS1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, HPS |
Target Sequences: | NM_000195 NP_000186.2 Q92902 |
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