BLOC1S6, Official Symbol BLOC1S6provided by HGNC Official Full Name biogenesis of lysosomal organelles complex 1 subunit 6provided by HGNC Primary source HGNC:HGNC:8549 See related Ensembl:ENSG00000104164 MIM:604310; AllianceGenome:HGNC:8549 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 PA; HPS9; PLDN; BLOS6; PALLID Summary The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015] Expression Ubiquitous expression in thyroid (RPKM 21.0), prostate (RPKM 17.5) and 25 other tissues See more Orthologs mouse all