AP3B1( Human )

Entrez Gene 8546 Entrez Gene 8546
adaptor related protein complex 3 beta 1 subunit

Alias

ADTB3|ADTB3A|HPS|HPS2

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].

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