Gene Symbol | HPS3 |
Entrez Gene ID | 84343 |
Full Name | HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
Synonyms | BLOC2S1,SUTAL |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Hermansky-Pudlak syndrome 3, 614072 (3) |