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CTNS encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Additionally we are shipping CTNS Antibodies (46) and CTNS Kits (3) and many more products for this protein.
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LAMP2A trafficking is regulated by cystinosin, Rab11, and RILP and that CMA up-regulation is a potential clinically relevant mechanism to increase cell survival in cystinosis.
Data indicate that hematopoietic stem cell (HSC (show FUT1 Proteins)) transplantation in cystinosin knockout (Ctns-/-) thyroid drastically decreased cystine accumulation and normalized the thyroid-stimulating hormone level.
Cells and tissues lacking CTNS expression are characterized by increased autophagosome numbers, but functional macroautophagic flux.
The Ctns(-/-) mouse model generated on C57BL/6 background is not suitable for clarifying the pathogenesis of male infertility in cystinosis.
Deletion of cystinosis gene (Ctns) causes corneal cystine crystals formation, neovascularization and scarring in the cornea of ctns transgenic mice mimicking cystinosis in humans.
the cause of cellular ATP depletion in nephrotic cystinosis may be the futile cycle (show LRMP Proteins), formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase (show OPLAH Proteins)
CTNS has a role in proper functioning of the retina and bones, and in mouse behavior
Temporospatial pattern of cystine accumulation in Ctns-/- mice parallels that of patients and validates the mice as a model for the ocular anomalies of cystinosis.
The coding exons of the CTNS gene in 5 different Jordanian families and one family from Sudan with nephropathic cystinosis were sequenced. None had the European 57-kb deletion. 7 variants in the coding and promoter sequence of the CTNS gene were found: 294C>T, -180T>C, -118C>T, c.504G>A, p.Thr168Thr, c.829dupA in exon 10, and c.890G>A in exon 11.
Results show that the high turnover of ITILELP mutation (del AA67-73) in cystinosin, because of its immature glycosylation state together with low transport activity, might be responsible for the phenotype observed in some cystinosis patients who carry this mutation.
silencing of AP-2 (show GTF3A Proteins) triggers the clathrin-independent endocytosis, showing the complex adaptability of cystinosin-LKG trafficking
upon comparison of the patients with cystinosis in this particular region with the European and North American patients, it is clear that different CTNS variants result in this disease.
GCK (show GCK Proteins) mutations are associated with Cystinosis.
Lack of cystinosin reduced TFEB (show TFEB Proteins) expression and induced TFEB (show TFEB Proteins) nuclear translocation.
CTNS deficiency alters cell signaling cascades resulting in impaired cell adhesion and enhanced cell motility in cystinosis.
Using polymerase chain reaction sequencing of the entire coding region, we identified five gene mutations, including two unreported mutations.
cystinosin-deficient cells had abnormal shape and distribution of the endo-lysosomal compartments and impaired endocytosis, with decreased surface expression of multiligand receptors and delayed lysosomal cargo processing.
CTNS-LKG represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions.
This gene 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.
amino acid transport system xc-
, cysteine/glutamate transporter
, cystine/glutamate transporter
, sodium independent anionic amino acid transport system
, solute carrier family 7 member 11
, cystinosis, nephropathic
, cystinosin, lysosomal cystine transporter