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AP3B1

Official Full Name
adaptor related protein complex 3 subunit beta 1
Organism
Homo sapiens
GeneID
8546
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
PE; HPS; HPS2; ADTB3; ADTB3A;

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