CTNS (gene)

Cystinosin, lysosomal cystine transporter
Identifiers
Symbols	CTNS; CTNS-LSB; PQLC4
External IDs	OMIM: 606272 MGI: 1932872 HomoloGene: 3625 GeneCards: CTNS Gene
Gene Ontology Molecular function • L-cystine transmembrane transporter activity • L-cystine transmembrane transporter activity Cellular component • lysosome • lysosomal membrane • lysosomal membrane • early endosome • late endosome • membrane • integral to membrane Biological process • cellular amino acid metabolic process • glutathione metabolic process • transport • brain development • L-cystine transport • L-cystine transport • ATP metabolic process • cognition Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1497	83429
Ensembl	ENSG00000040531	ENSMUSG00000005949
UniProt	O60931	Q3TC99
RefSeq (mRNA)	NM_001031681.2	NM_031251.4
RefSeq (protein)	NP_001026851.2	NP_112541.1
Location (UCSC)	Chr 17: 3.54 – 3.56 Mb	Chr 11: 73 – 73.01 Mb
PubMed search	[1]	[2]

Cystinosin is a protein that in humans is encoded by the CTNS gene.^[1][2]

See also

• Cystinosis

References

1. ^ Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac C (Apr 1998). "A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis". Nat Genet 18 (4): 319–24. doi:10.1038/ng0498-319. PMID 9537412. 
2. ^ "Entrez Gene: CTNS cystinosis, nephropathic". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1497. 

Further reading

• Anikster Y, Shotelersuk V, Gahl WA (2000). "CTNS mutations in patients with cystinosis.". Hum. Mutat. 14 (6): 454–8. doi:10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO;2-H. PMID 10571941. 
• Gahl WA, Thoene JG, Schneider JA (2002). "Cystinosis.". N. Engl. J. Med. 347 (2): 111–21. doi:10.1056/NEJMra020552. PMID 12110740. 
• Kalatzis V, Antignac C (2003). "Cystinosis: from gene to disease.". Nephrol. Dial. Transplant. 17 (11): 1883–6. doi:10.1093/ndt/17.11.1883. PMID 12401840. 
• Shotelersuk V, Larson D, Anikster Y, et al. (1998). "CTNS mutations in an American-based population of cystinosis patients.". Am. J. Hum. Genet. 63 (5): 1352–62. doi:10.1086/302118. PMC 1377545. PMID 9792862. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1377545. 
• Anikster Y, Lucero C, Touchman JW, et al. (1999). "Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).". Mol. Genet. Metab. 66 (2): 111–6. doi:10.1006/mgme.1998.2790. PMID 10068513. 
• Thoene J, Lemons R, Anikster Y, et al. (1999). "Mutations of CTNS causing intermediate cystinosis.". Mol. Genet. Metab. 67 (4): 283–93. doi:10.1006/mgme.1999.2876. PMID 10444339. 
• McGowan-Jordan J, Stoddard K, Podolsky L, et al. (1999). "Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.". Eur. J. Hum. Genet. 7 (6): 671–8. doi:10.1038/sj.ejhg.5200349. PMID 10482956. 
• Attard M, Jean G, Forestier L, et al. (2000). "Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.". Hum. Mol. Genet. 8 (13): 2507–14. doi:10.1093/hmg/8.13.2507. PMID 10556299. 
• Anikster Y, Lucero C, Guo J, et al. (2000). "Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.". Pediatr. Res. 47 (1): 17–23. doi:10.1203/00006450-200001000-00007. PMID 10625078. 
• Touchman JW, Anikster Y, Dietrich NL, et al. (2000). "The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.". Genome Res. 10 (2): 165–73. doi:10.1101/gr.10.2.165. PMC 310836. PMID 10673275. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=310836. 
• Cherqui S, Kalatzis V, Forestier L, et al. (2003). "Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns.". BMC Genomics 1: 2. doi:10.1186/1471-2164-1-2. PMC 29086. PMID 11121245. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=29086. 
• Cherqui S, Kalatzis V, Trugnan G, Antignac C (2001). "The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif.". J. Biol. Chem. 276 (16): 13314–21. doi:10.1074/jbc.M010562200. PMID 11150305. 
• Phornphutkul C, Anikster Y, Huizing M, et al. (2001). "The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region.". Am. J. Hum. Genet. 69 (4): 712–21. doi:10.1086/323484. PMC 1226058. PMID 11505338. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1226058. 
• Rupar CA, Matsell D, Surry S, Siu V (2002). "A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population.". J. Med. Genet. 38 (9): 615–6. doi:10.1136/jmg.38.9.615. PMC 1734937. PMID 11565547. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1734937. 
• Kleta R, Anikster Y, Lucero C, et al. (2002). "CTNS mutations in African American patients with cystinosis.". Mol. Genet. Metab. 74 (3): 332–7. doi:10.1006/mgme.2001.3218. PMID 11708862. 
• Kiehntopf M, Schickel J, Gönne B, et al. (2002). "Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.". Hum. Mutat. 20 (3): 237. doi:10.1002/humu.9063. PMID 12204010. 

External links

• GeneReviews/NCBI/NIH/UW entry on Cystinosis