AP3B1
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Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene.[1][2][3]
Function
[edit | edit source]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.[3]
Interactions
[edit | edit source]AP3B1 has been shown to interact with AP3S2.[1]
References
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External links
[edit | edit source]- GeneReviews/NCBI/NIH/UW entry on Hermansky-Pudlak Syndrome
- Human AP3B1 genome location and AP3B1 gene details page in the UCSC Genome Browser.
Further reading
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