HPS3
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Hermansky-Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.[1][2]
This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined.[2]
References
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Further reading
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