CTNS Antibody
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中文名稱:CTNS兔多克隆抗體
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貨號:CSB-PA006174GA01HU
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規(guī)格:¥3,900
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其他:
產(chǎn)品詳情
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Uniprot No.:
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基因名:CTNS
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別名:CTNS; Cystinosin
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宿主:Rabbit
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反應(yīng)種屬:Human,Mouse,Rat
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免疫原:Human CTNS
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免疫原種屬:Homo sapiens (Human)
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抗體亞型:IgG
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純化方式:Antigen Affinity Purified
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濃度:It differs from different batches. Please contact us to confirm it.
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保存緩沖液:PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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產(chǎn)品提供形式:Liquid
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應(yīng)用范圍:ELISA,WB,IHC
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Protocols:
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儲存條件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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貨期:Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
相關(guān)產(chǎn)品
靶點詳情
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功能:Cystine/H(+) symporter that mediates export of cystine, the oxidized dimer of cysteine, from lysosomes. Plays an important role in melanin synthesis by catalyzing cystine export from melanosomes, possibly by inhibiting pheomelanin synthesis. In addition to cystine export, also acts as a positive regulator of mTORC1 signaling in kidney proximal tubular cells, via interactions with components of the v-ATPase and Ragulator complexes. Also involved in small GTPase-regulated vesicle trafficking and lysosomal localization of LAMP2A, independently of cystine transporter activity.
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基因功能參考文獻:
- 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 PMID: 28238446
- Potential dual function of PQ-loop proteins such as cystinosin. PMID: 28887435
- 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. PMID: 27656773
- This work demonstrated no major abnormality ofER and lysosomal Ca2+signalling associated with cystinosin defi-ciency in human proximal tubular epithelial cells. PMID: 27451386
- 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. PMID: 26565940
- 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. PMID: 28082515
- silencing of AP-2 triggers the clathrin-independent endocytosis, showing the complex adaptability of cystinosin-LKG trafficking PMID: 27148969
- 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. PMID: 28276207
- GCK mutations are associated with Cystinosis. PMID: 27269891
- Lack of cystinosin reduced TFEB expression and induced TFEB nuclear translocation. PMID: 26994576
- CTNS deficiency alters cell signaling cascades resulting in impaired cell adhesion and enhanced cell motility in cystinosis. PMID: 27083281
- Using polymerase chain reaction sequencing of the entire coding region, we identified five gene mutations, including two unreported mutations. PMID: 26655004
- 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. PMID: 25811383
- CTNS-LKG represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions. PMID: 22544350
- 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 PMID: 25866837
- 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. PMID: 25326109
- The present data exhibit a fundament for molecular carrier detection and prenatal diagnosis of a relatively large percentage of Iranian patients suffering from NC PMID: 23640116
- Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors.[cytonosin] PMID: 22363504
- 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 PMID: 22649030
- 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. PMID: 22450360
- Report CTNS mutations in Turkish cystinosis patients. PMID: 21786142
- cystinosin exports the proteolysis-derived dimeric amino acid cystine from lysosomes and is impaired in cystinosis. PMID: 22232659
- CTNS plays a pivotal role in regulating cell thiol concentrations. PMID: 21508882
- gene expression is modulated by intracellular thiols PMID: 20079424
- Analysis of CTNS gene transcripts allowed identification of mutations in patients in whom CTNS mutations could not be detected by traditional DNA sequencing. PMID: 20352457
- 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 PMID: 20413906
- Analysis of the CTNS gene in 32 cystinosis patients from Spain PMID: 19863563
- G339R mutation is a common cause of nephropathic cystinosis in the southwestern Ontario Amish Mennonite population PMID: 11565547
- A new homozygous GT-->CC substitution of CTNS creates the out-of-frame splicing of exon 5 and a null allele consistent with the patient's severe phenotype. PMID: 11708862
- molecular basis of cystinosis - review. PMID: 12401840
- Data suggest that these individuals carry mutations either in the introns or in unidentified regulatory sequences. PMID: 12442267
- a 57-kb deletion in CTNS causing cystinosis can be visualized by FISH technique PMID: 15365816
- Results show that the yeast Ers1 protein and cystinosin are functional orthologues, despite sharing only limited sequence homology. PMID: 15885099
- There may be an influence of the cystinosis gene on brain development, rather than an adverse effect of prolonged cystine accumulation in the brain during childhood. PMID: 17643777
- Analysis of the CTNS gene in nephrotic cystinosis Mexian patients: report of four novel mutations and identification of a false-positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay. PMID: 18752449
- Sequencing analysis of all the CTNS exons revealed that the proband is homozygous for a 3-bp in-frame deletion in exon 10 (c.809_811delCCT), resulting in the loss of a conserved p.Ser270del within the fifth transmembrane domain of CTNS. PMID: 19580442
- Eight mutations were identified, four of which are novel (c.530A>G, c.681G>A, 1013T>G, and c.1018_1041del). These alleles will provide the basis for routine molecular diagnosis of cystinosis. PMID: 19852576
- specific promotor mutations cause cystinosis PMID: 11505338
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相關(guān)疾?。?/div>Cystinosis, nephropathic type (CTNS); Cystinosis, adult, non-nephropathic type (CTNSANN); Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN)亞細胞定位:[Isoform 1]: Lysosome membrane; Multi-pass membrane protein. Melanosome membrane; Multi-pass membrane protein.; [Isoform 2]: Lysosome membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.蛋白家族:Cystinosin family組織特異性:Strongly expressed in pancreas, kidney (adult and fetal), skeletal muscle, melanocytes and keratinocytes. Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal).; [Isoform 2]: Represents 5-20 % of CTNS數(shù)據(jù)庫鏈接:
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