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HPS3

Official Full Name
HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
Organism
Homo sapiens
GeneID
84343
Background
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]
Synonyms
SUTAL; BLOC2S1;

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