{"symbol":"SNAPIN","synonyms":["BORCS3","SNAPAP","BLOS7","BLOC1S7"],"name":"SNAP-associated protein","description":"The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]","ncbiEntrezGeneId":23557,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/23557","proteins":[{"symbol":"SNAPN_HUMAN","href":"/api/1.0/protein/SNAPN_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"}]}