{"symbol":"HPS1","synonyms":["BLOC3S1","HPS"],"name":"Hermansky-Pudlak syndrome 1","description":"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. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]","ncbiEntrezGeneId":3257,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/3257","proteins":[{"symbol":"HPS1_HUMAN","href":"/api/1.0/protein/HPS1_HUMAN"}],"hgncRootFamilies":[]}