{"symbol":"AP3B1","synonyms":["ADTB3","ADTB3A"],"name":"adaptor-related protein complex 3, beta 1 subunit","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 part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]","ncbiEntrezGeneId":8546,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/8546","proteins":[{"symbol":"AP3B1_HUMAN","href":"/api/1.0/protein/AP3B1_HUMAN"}],"hgncRootFamilies":[]}