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Cystinosis, Nephropathic (CTNS)

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CTNS-LSB; PQLC4; Cystinosin

Cystinosis, Nephropathic (CTNS)
CCC L140
HGNC 2518
MGI 1932872
PubMed 12825071
RGD 1308466
UniProt O60931
Wiki CTNS
CTNS encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants.
CTNS encodes an integral membrane protein, which they designated cystinosin, that has features of a lysosomal membrane protein. CTNS, a putative cystine transporter, contains 367 amino acids and 7 transmembrane domains. A 2.7-kb transcript of the CTNS gene was strongly expressed in pancreas, kidney (mature and fetal), skeletal muscle, to a lesser extent in placenta and heart, and weakly in lung and liver.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPL140Hu01 Recombinant Cystinosis, Nephropathic (CTNS) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Cystinosis, Nephropathic (CTNS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cystinosis, Nephropathic (CTNS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cystinosis, Nephropathic (CTNS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cystinosis, Nephropathic (CTNS) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cystinosis, Nephropathic (CTNS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cystinosis, Nephropathic (CTNS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cystinosis, Nephropathic (CTNS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cystinosis, Nephropathic (CTNS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cystinosis, Nephropathic (CTNS) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Cystinosis, Nephropathic (CTNS) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Cystinosis, Nephropathic (CTNS) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Cystinosis, Nephropathic (CTNS) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Cystinosis, Nephropathic (CTNS) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cystinosis, Nephropathic (CTNS) ELISA Kit Customized Service Offer
  1. "A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis."Nat. Genet. 18:319-324(1998) [PubMed] [Europe PMC] [Abstract]
  2. "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. 10:165-173(2000) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)."Mol. Genet. Metab. 66:111-116(1999) [PubMed] [Europe PMC] [Abstract]
  7. "CTNS mutations in patients with cystinosis."Hum. Mutat. 14:454-458(1999) [PubMed] [Europe PMC] [Abstract]
  8. "Integral and associated lysosomal membrane proteins."Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]
  9. "Identification and subcellular localization of a new cystinosin isoform."Am. J. Physiol. 294:F1101-F1108(2008) [PubMed] [Europe PMC] [Abstract]
  10. "Cystinosin is a melanosomal protein that regulates melanin synthesis."FASEB J. 26:3779-3789(2012) [PubMed] [Europe PMC] [Abstract]
  11. "Distribution of cystinosin-LKG in human tissues."Histochem. Cell Biol. 138:351-363(2012) [PubMed] [Europe PMC] [Abstract]
  12. "CTNS mutations in an American-based population of cystinosis patients."Am. J. Hum. Genet. 63:1352-1362(1998) [PubMed] [Europe PMC] [Abstract]
  13. "Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation."Eur. J. Hum. Genet. 7:671-678(1999) [PubMed] [Europe PMC] [Abstract]
  14. "Mutations of CTNS causing intermediate cystinosis."Mol. Genet. Metab. 67:283-293(1999) [PubMed] [Europe PMC] [Abstract]
  15. "Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin."Hum. Mol. Genet. 8:2507-2514(1999) [PubMed] [Europe PMC] [Abstract]
  16. "Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis."Hum. Mutat. 20:237-237(2002) [PubMed] [Europe PMC] [Abstract]
  17. "Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis."Hum. Mutat. 20:439-446(2002) [PubMed] [Europe PMC] [Abstract]
  18. "Mutational spectrum of the CTNS gene in Italy."Eur. J. Hum. Genet. 11:503-508(2003) [PubMed] [Europe PMC] [Abstract]
  19. "Characterization of CTNS mutations in Arab patients with cystinosis."Ophthalmic Genet. 30:185-189(2009) [PubMed] [Europe PMC] [Abstract]
  20. "Two novel CTNS mutations in cystinosis patients in Thailand."Gene 499:323-325(2012) [PubMed] [Europe PMC] [Abstract]
  21. "Genetic basis of cystinosis in Turkish patients: a single-center experience."Pediatr. Nephrol. 27:115-121(2012) [PubMed] [Europe PMC] [Abstract]