{"symbol":"CTNS","synonyms":["CTNS-LSB","SLC66A4","PQLC4"],"name":"cystinosin, lysosomal cystine transporter","description":"This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]","ncbiEntrezGeneId":1497,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/1497","proteins":[{"symbol":"CTNS_HUMAN","href":"/api/1.0/protein/CTNS_HUMAN"}],"hgncRootFamilies":[]}