Entrez gene ID | | 8546 |
Official gene symbol | | AP3B1 |
Full name | | adaptor-related protein complex 3, beta 1 subunit |
Aliases | | ,ADTB3,ADTB3A,HPS,HPS2,PE, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 5 Locus: 5q14.1 |
Gene position | | 77590528 - 77298150 Map Viewer |
Gene orientation | | minus |
Gene size | | 292379 bp |
Gene sequence |
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OMIM ID | | 603401 |