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Gene Review

Ctns  -  cystinosis, nephropathic

Mus musculus

Synonyms: AI195360, AW049661, Cystinosin
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Disease relevance of Ctns


High impact information on Ctns


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].


  1. Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Cherqui, S., Sevin, C., Hamard, G., Kalatzis, V., Sich, M., Pequignot, M.O., Gogat, K., Abitbol, M., Broyer, M., Gubler, M.C., Antignac, C. Mol. Cell. Biol. (2002) [Pubmed]
  2. Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns. Cherqui, S., Kalatzis, V., Forestier, L., Poras, I., Antignac, C. BMC Genomics (2000) [Pubmed]
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