Cystinosis, Nephropathic Proteine (CTNS)

CTNS encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Zusätzlich bieten wir Ihnen CTNS Antikörper (47) und CTNS Kits (3) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
CTNS 1497 O60931
Ratte CTNS CTNS 287478  
CTNS 83429 P57757
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Top CTNS Proteine auf antikoerper-online.de

Showing 7 out of 8 products:

Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 30 bis 35 Tage
$4,331.68
Details
Insektenzellen Human rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.5 mg Anmelden zum Anzeigen 50 bis 55 Tage
$6,041.49
Details
Insektenzellen Maus rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.25 mg Anmelden zum Anzeigen 50 bis 55 Tage
$4,244.78
Details
Escherichia coli (E. coli) Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 30 bis 35 Tage
$4,331.68
Details
Escherichia coli (E. coli) Human His tag   100 μg Anmelden zum Anzeigen 15 bis 18 Tage
$720.00
Details
Wheat germ Human GST tag 10 μg Anmelden zum Anzeigen 11 bis 12 Tage
$405.71
Details
HEK-293 Cells Human Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Anmelden zum Anzeigen 10 bis 12 Tage
$785.40
Details

CTNS Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Human , , ,
, , ,
Mouse (Murine) ,
,

Weitere Proteine zu Cystinosis, Nephropathic (CTNS) Interaktionspartnern

Mouse (Murine) Cystinosis, Nephropathic (CTNS) Interaktionspartner

  1. 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.

  2. Data indicate that hematopoietic stem cell (HSC (zeige FUT1 Proteine)) transplantation in cystinosin knockout (Ctns-/-) thyroid drastically decreased cystine accumulation and normalized the thyroid-stimulating hormone level.

  3. Cells and tissues lacking CTNS expression are characterized by increased autophagosome numbers, but functional macroautophagic flux.

  4. The Ctns(-/-) mouse model generated on C57BL/6 background is not suitable for clarifying the pathogenesis of male infertility in cystinosis.

  5. Deletion of cystinosis gene (Ctns) causes corneal cystine crystals formation, neovascularization and scarring in the cornea of ctns transgenic mice mimicking cystinosis in humans.

  6. the cause of cellular ATP depletion in nephrotic cystinosis may be the futile cycle (zeige LRMP Proteine), formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase (zeige OPLAH Proteine)

  7. CTNS has a role in proper functioning of the retina and bones, and in mouse behavior

  8. 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.

Human Cystinosis, Nephropathic (CTNS) Interaktionspartner

  1. To study the role of the cystinosin-LKG-isoform, we have investigated cystine accumulation and apoptosis that have been described in cystinotic cells. The levels of TNFalpha (zeige TNF Proteine)- and actinomycin D-inducted apoptosis dropped in cystinotic cells expressing LKG-isoform. This effect was also similar to the main isoform.

  2. This work demonstrated no major abnormality ofER and lysosomal Ca2 (zeige CA2 Proteine)+signalling associated with cystinosin defi-ciency in human proximal tubular epithelial cells.

  3. 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.

  4. 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.

  5. silencing of AP-2 (zeige GTF3A Proteine) triggers the clathrin-independent endocytosis, showing the complex adaptability of cystinosin-LKG trafficking

  6. 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.

  7. GCK (zeige GCK Proteine) mutations are associated with Cystinosis.

  8. Lack of cystinosin reduced TFEB (zeige TFEB Proteine) expression and induced TFEB (zeige TFEB Proteine) nuclear translocation.

  9. CTNS deficiency alters cell signaling cascades resulting in impaired cell adhesion and enhanced cell motility in cystinosis.

  10. Using polymerase chain reaction sequencing of the entire coding region, we identified five gene mutations, including two unreported mutations.

CTNS Protein Überblick

Protein Überblick

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.

Genbezeichner und Symbole assoziert mit CTNS

  • cystinosin, lysosomal cystine transporter (CTNS)
  • cystinosin, lysosomal cystine transporter (Ctns)
  • cystinosis, nephropathic (Ctns)
  • cystinosin, lysosomal cystine transporter (ctns)
  • cystinosis, nephropathic (CTNS)
  • cystinosin, lysosomal cystine transporter L homeolog (ctns.L)
  • AI195360 Protein
  • AW049661 Protein
  • CTNS Protein
  • CTNS-LSB Protein
  • PQLC4 Protein
  • zgc:110194 Protein

Bezeichner auf Proteinebene für CTNS

cystinosin , cystinosis, nephropathic , cystinosin-like , cystinosin, lysosomal cystine transporter

GENE ID SPEZIES
1497 Homo sapiens
417606 Gallus gallus
287478 Rattus norvegicus
83429 Mus musculus
553594 Danio rerio
491220 Canis lupus familiaris
100060554 Equus caballus
748043 Pan troglodytes
706721 Macaca mulatta
780074 Xenopus (Silurana) tropicalis
613527 Bos taurus
431937 Xenopus laevis
100223329 Taeniopygia guttata
100409361 Callithrix jacchus
100443212 Pongo abelii
100592953 Nomascus leucogenys
Ausgewählte Anbieter für CTNS Proteine (CTNS)
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