HPS1
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Hermansky-Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.[1][2][3]
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.[3]
References
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External links
Further reading
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