Puneet Varma

AP3B1

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Species  Human
Entrez  8546
Human  Mouse
Ensembl  ENSG00000132842
AP3B1
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


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