Full name: cystinosin, lysosomal cystine transporter

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CTNS-LSB; PQLC4; SLC66A4

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

Gene size: 26645bp

Exon count: 13