CTNS, Official Symbol CTNSprovided by HGNC Official Full Name cystinosin, lysosomal cystine transporterprovided by HGNC Primary source HGNC:HGNC:2518 See related Ensembl:ENSG00000040531 MIM:606272; AllianceGenome:HGNC:2518 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 PQLC4; SLC66A4; CTNS-LSB Summary 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] Expression Ubiquitous expression in testis (RPKM 9.6), adrenal (RPKM 5.7) and 25 other tissues See more Orthologs mouse all