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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for AP3B1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID8546
Official gene symbolAP3B1
Full nameadaptor-related protein complex 3, beta 1 subunit
Aliases,ADTB3,ADTB3A,HPS,HPS2,PE,
Gene summaryThis 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]
LocationChromosome: 5   Locus: 5q14.1
Gene position77590528 - 77298150  Map Viewer
Gene orientationminus
Gene size292379 bp
Gene sequence
OMIM ID603401