Disease relevance of Ctns

• Ctns(-/-) mice accumulated cystine in all organs tested, and cystine crystals, pathognomonic of cystinosis, were observed [1].
• Interestingly, Ctns(-/-) mice did not develop signs of a proximal tubulopathy, or renal failure [1].

High impact information on Ctns

• A preliminary therapeutic trial using an oral administration of cysteamine was carried out and demonstrated the efficiency of this treatment for cystine clearance in Ctns(-/-) mice [1].
• We replaced the last four Ctns exons by an internal ribosome entry site-betagal-neo cassette and showed that the truncated protein was mislocalized and nonfunctional [1].
• We localised Ctns to mouse chromosome 11 in a region syntenic to human chromosome 17 containing CTNS [2].
• Ctns is widely expressed in all tissues tested with the exception of skeletal muscle, in contrast to CTNS [2].
• RESULTS: We have cloned the murine homologue of CTNS, Ctns, and the encoded amino acid sequence is 92.6% similar to cystinosin [2].

Associations of Ctns with chemical compounds

• The causative gene, CTNS, encodes cystinosin, a seven-transmembrane-domain protein, which we recently showed to be a lysosomal cystine transporter [1].

References