HPS3( Human )

Entrez Gene 84343 Entrez Gene 84343
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1

Alias

BLOC2S1|SUTAL

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. [provided by RefSeq, Apr 2015].

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