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HPS3 is 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.
Gene Name: | Hermansky-Pudlak syndrome 3 |
Synonyms: | HPS3, Hermansky-Pudlak syndrome 3, SUTAL |
Target Sequences: | NM_032383 NP_115759.2 Q969F9 |
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