ⓘ HPS1

                                     

ⓘ HPS1

Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosome, platelet dense granules and lysosomes. The encoded protein is a component of three different protein complexes, called the biogenesis of lysosome-organelle associated with complex Bloc-3, BLOC4, and BLOC5. Mutations in this gene associated with the syndrome Hermansky–Pudlak type 1. Several variants of transcripts encoding different isoforms have been identified for this gene, the full-length sequences of some of them is not yet defined.