AP3M1, Official Symbol AP3M1provided by HGNC Official Full Name adaptor related protein complex 3 subunit mu 1provided by HGNC Primary source HGNC:HGNC:569 See related Ensembl:ENSG00000185009 MIM:610366; AllianceGenome:HGNC:569 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Ubiquitous expression in placenta (RPKM 10.7), thyroid (RPKM 10.7) and 25 other tissues See more Orthologs mouse all