HPS5, Official Symbol HPS5provided by HGNC Official Full Name HPS5 biogenesis of lysosomal organelles complex 2 subunit 2provided by HGNC Primary source HGNC:HGNC:17022 See related Ensembl:ENSG00000110756 MIM:607521; AllianceGenome:HGNC:17022 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 AIBP63; BLOC2S2 Summary This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 12.4), liver (RPKM 9.8) and 25 other tissues See more Orthologs mouse all