AP3B1

AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene.

AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene.

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.

AP3B1 has been shown to interact with AP3S2.

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  • GeneReviews/NCBI/NIH/UW entry on Hermansky-Pudlak Syndrome
  • Human AP3B1 genome location and AP3B1 gene details page in the UCSC Genome Browser.

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