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ap3b1

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Official Full Name
adaptor-related protein complex 3, beta 1 subunit
Background
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]
Synonyms
AP3B1; adaptor-related protein complex 3, beta 1 subunit; PE; HPS; HPS2; ADTB3; ADTB3A; AP-3 complex subunit beta-1; beta-3A-adaptin; AP-3 complex beta-3A subunit; adaptor protein complex AP-3 subunit beta-1; clathrin assembly protein complex 3 beta-1 large chain; beta3A-adaptin; adapter-related protein complex 3 subunit beta-1