{"symbol":"BLOC1S5","synonyms":["BLOS5","MUTED"],"name":"biogenesis of lysosomal organelles complex-1, subunit 5, muted","description":"This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]","ncbiEntrezGeneId":63915,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/63915","proteins":[{"symbol":"BL1S5_HUMAN","href":"/api/1.0/protein/BL1S5_HUMAN"}],"hgncRootFamilies":[{"name":"Biogenesis of lysosomal organelles complex-1 subunits (BLOC1S)","href":"/api/1.0/gene_family/Biogenesis+of+lysosomal+organelles+complex-1+subunits+%28BLOC1S%29"}]}