HPS4, Official Symbol HPS4provided by HGNC Official Full Name HPS4 biogenesis of lysosomal organelles complex 3 subunit 2provided by HGNC Primary source HGNC:HGNC:15844 See related Ensembl:ENSG00000100099 MIM:606682; AllianceGenome:HGNC:15844 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 LE; BLOC3S2 Summary This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] Expression Ubiquitous expression in testis (RPKM 8.6), skin (RPKM 8.1) and 25 other tissues See more Orthologs mouse all