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Antibody detects endogenous levels of total HPS3.
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.
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Protein Aliases: BLOC-2 complex member HPS3; cocoa; Cocoa protein; DKFZp686F0413; FLJ22704; Hermansky-Pudlak syndrome 3 protein; Hermansky-Pudlak syndrome 3 protein homolog
Gene Aliases: BLOC2S1; Coa; HPS3; SUTAL
UniProt ID: (Human) Q969F9, (Mouse) Q91VB4
Entrez Gene ID: (Human) 84343, (Mouse) 12807, (Rat) 310288
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