Cystinosis, Nephropathic (CTNS) ELISA试剂盒

CTNS encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. 再加上,我们可以发CTNS 抗体 (43)CTNS 蛋白 (9)和数多这个蛋白质的别的产品。

list all ELISA KIts 基因 基因ID UniProt
CTNS 1497 O60931
大鼠 CTNS CTNS 287478  
CTNS 83429 P57757
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Human Cystinosis, Nephropathic (CTNS) interaction partners

  1. Cystinosis was primarily diagnosed by a pediatric nephrologist and then referred to the Iran University of Medical Sciences genetics clinic for consultation and molecular analysis, which involved polymerase chain reaction (PCR) amplification to determine the presence or absence of the 57-kb founder deletion in CTNS, followed by direct sequencing of the coding exons of CTNS

  2. Potential dual function of PQ-loop proteins such as cystinosin.

  3. 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- and actinomycin D-inducted apoptosis dropped in cystinotic cells expressing LKG-isoform. This effect was also similar to the main isoform.

  4. This work demonstrated no major abnormality ofER and lysosomal Ca2+signalling associated with cystinosin defi-ciency in human proximal tubular epithelial cells.

  5. 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.

  6. 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.

  7. silencing of AP-2 triggers the clathrin-independent endocytosis, showing the complex adaptability of cystinosin-LKG trafficking

  8. 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.

  9. GCK mutations are associated with Cystinosis.

  10. Lack of cystinosin reduced TFEB expression and induced TFEB nuclear translocation.

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

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

  13. 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.

  14. CTNS-LKG represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions.

  15. identified two novel CTNS splicing deletions in a Chinese IC family, one at the donor site of exon 6 of CTNS and the other at the acceptor site of exon 8

  16. We recommend that black South African and Cape Coloured patients presenting with cystinosis be tested for CTNS-c.971-12G > A in the first instance, with the possibility of prenatal testing being offered to at-risk families.

  17. The present data exhibit a fundament for molecular carrier detection and prenatal diagnosis of a relatively large percentage of Iranian patients suffering from NC

  18. Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors.[cytonosin]

  19. results objectify the pigmentation defect in patients with cystinosis. We also identify the role of CTNS in melanogenesis and add a new gene to the list of the genes involved in the control of skin and hair pigmentation

  20. Mutation analysis of CTNS in six cystinosis patients from four families in Thailand. Using PCR sequencing of the entire coding regions, study identified all eight mutant alleles, including two mutations, p.G309D and p.Q284X, that have not been previously reported.

Mouse (Murine) Cystinosis, Nephropathic (CTNS) interaction partners

  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) 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 onset of Fanconi syndrome in knockout mice is between 3 and 6 months of age with structural and functional changes in proximal tubular cells (PTCs), with focus on endocytosis of ultrafiltrated disulfide-rich proteins as a key source of cystine.

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

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

  7. the cause of cellular ATP depletion in nephrotic cystinosis may be the futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase

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

  9. 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.

  10. Data provide the proof-of-concept that gene transfer is feasible for correcting defective lysosomal transport, but suggest that, in the case of cystinosis, it could be preventive but not curative in some tissues.

CTNS 抗原简介

Antigen Summary

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.

Gene names and symbols associated with CTNS

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

Protein level used designations for CTNS

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

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
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