Cystinosis, Nephropathic (CTNS)

CTNS-LSB; PQLC4; Cystinosin

SPN	N247
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.

Reference

"A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis."
Nat. Genet. 18:319-324(1998) [PubMed] [Europe PMC] [Abstract]

"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]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"CTNS mutations in patients with cystinosis."
Hum. Mutat. 14:454-458(1999) [PubMed] [Europe PMC] [Abstract]

"Integral and associated lysosomal membrane proteins."
Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]

"Identification and subcellular localization of a new cystinosin isoform."
Am. J. Physiol. 294:F1101-F1108(2008) [PubMed] [Europe PMC] [Abstract]

"Cystinosin is a melanosomal protein that regulates melanin synthesis."
FASEB J. 26:3779-3789(2012) [PubMed] [Europe PMC] [Abstract]

"Distribution of cystinosin-LKG in human tissues."
Histochem. Cell Biol. 138:351-363(2012) [PubMed] [Europe PMC] [Abstract]

"CTNS mutations in an American-based population of cystinosis patients."
Am. J. Hum. Genet. 63:1352-1362(1998) [PubMed] [Europe PMC] [Abstract]

"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]

"Mutations of CTNS causing intermediate cystinosis."
Mol. Genet. Metab. 67:283-293(1999) [PubMed] [Europe PMC] [Abstract]

"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]

"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]

"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]

"Mutational spectrum of the CTNS gene in Italy."
Eur. J. Hum. Genet. 11:503-508(2003) [PubMed] [Europe PMC] [Abstract]

"Characterization of CTNS mutations in Arab patients with cystinosis."
Ophthalmic Genet. 30:185-189(2009) [PubMed] [Europe PMC] [Abstract]

"Two novel CTNS mutations in cystinosis patients in Thailand."
Gene 499:323-325(2012) [PubMed] [Europe PMC] [Abstract]

"Genetic basis of cystinosis in Turkish patients: a single-center experience."
Pediatr. Nephrol. 27:115-121(2012) [PubMed] [Europe PMC] [Abstract]