{"symbol":"HPS5","synonyms":["AIBP63","BLOC2S2"],"name":"Hermansky-Pudlak syndrome 5","description":"This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":11234,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/11234","proteins":[{"symbol":"HPS5_HUMAN","href":"/api/1.0/protein/HPS5_HUMAN"}],"hgncRootFamilies":[]}