BLOC1S3, Official Symbol BLOC1S3provided by HGNC Official Full Name biogenesis of lysosomal organelles complex 1 subunit 3provided by HGNC Primary source HGNC:HGNC:20914 See related Ensembl:ENSG00000189114 MIM:609762; AllianceGenome:HGNC:20914 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 RP; HPS8; BLOS3 Summary This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 2.9), skin (RPKM 2.7) and 25 other tissues See more Orthologs mouse all