| ncRNA Symbol: | HPS3 | | Full Name: | HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 | | Category: | mRNA | | Synonyms: | BLOC2S1|SUTAL | | Chromosome: | chr3 | | Strand: | + | | Coordinate: | | Start Site(bp): | 149129584 | End Site(bp): | 149173732 | | | Gene Summary: | 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] | | External Links: | |
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