CTNS (gene)

From Wikipedia, the free encyclopedia

Cystinosis, nephropathic

Identifiers

CTNS; CTNS-LSB; PQLC4

External IDs

OMIM: 606272 MGI: 1932872 HomoloGene: 3625

Gene ontology
Molecular Function:	• L-cystine transmembrane transporter activity
Cellular Component:	• lysosomal membrane • membrane • integral to membrane
Biological Process:	• amino acid metabolic process • transport • L-cystine transport

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001031681 (mRNA)
NP_001026851 (protein)

NM_031251 (mRNA)
NP_112541 (protein)

Location

Chr 17: 3.49 - 3.51 Mb

Chr 11: 73 - 73.02 Mb

Pubmed search

[1]

[2]

Cystinosis, nephropathic, also known as CTNS, is a human gene.^[1]

[edit] References

^ Entrez Gene: CTNS cystinosis, nephropathic.

[edit] 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. 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.
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.
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. 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. 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. PMID 10673275.
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.
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. PMID 11505338.
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.
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.