Species Human Entrez 8546 | Human Mouse Ensembl ENSG00000132842 | |
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Aliases AP3B1, ADTB3, ADTB3A, HPS, HPS2, PE, adaptor related protein complex 3 beta 1 subunit External IDs MGI: 1333879 HomoloGene: 68125 GeneCards: AP3B1 | ||
AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene.
Contents
Function
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.
Interactions
AP3B1 has been shown to interact with AP3S2.
References
AP3B1 Wikipedia(Text) CC BY-SA