HPS3, Official Symbol HPS3provided by HGNC Official Full Name HPS3 biogenesis of lysosomal organelles complex 2 subunit 1provided by HGNC Primary source HGNC:HGNC:15597 See related Ensembl:ENSG00000163755 MIM:606118; AllianceGenome:HGNC:15597 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SUTAL; BLOC2S1 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] Expression Broad expression in liver (RPKM 82.9), lymph node (RPKM 10.8) and 18 other tissues See more Orthologs mouse all