{"symbol":"HPS4","synonyms":["BLOC3S2"],"name":"Hermansky-Pudlak syndrome 4","description":"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]","ncbiEntrezGeneId":89781,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/89781","proteins":[{"symbol":"HPS4_HUMAN","href":"/api/1.0/protein/HPS4_HUMAN"}],"hgncRootFamilies":[]}