CTNS (gene)

Cystinosis, nephropathic
Identifiers
Symbols	CTNS ; CTNS-LSB; PQLC4
External IDs	Template:OMIM5 Template:MGI HomoloGene: 3625
Gene ontology Molecular function Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Cystinosis, nephropathic, also known as CTNS, is a human gene.

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.CS1 maint: Multiple names: authors list (link)
• Gahl WA, Thoene JG, Schneider JA (2002). "Cystinosis". N. Engl. J. Med. 347 (2): 111–21. doi:10.1056/NEJMra020552. PMID 12110740.CS1 maint: Multiple names: authors list (link)
• Kalatzis V, Antignac C (2003). "Cystinosis: from gene to disease". Nephrol. Dial. Transplant. 17 (11): 1883–6. PMID 12401840.
• Town M, Jean G, Cherqui S; et al. (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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 9792862.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 10556299.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Anikster Y, Lucero C, Guo J; et al. (2000). "Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations". Pediatr. Res. 47 (1): 17–23. PMID 10625078.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 10673275.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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 (1): 2. PMID 11121245.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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. PMID 11505338.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 11565547.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)