SLC22A5 Antibody
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中文名稱:SLC22A5兔多克隆抗體
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貨號:CSB-PA050100
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規(guī)格:¥880
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其他:
產(chǎn)品詳情
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Uniprot No.:
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基因名:SLC22A5
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別名:CDSP antibody; High-affinity sodium-dependent carnitine cotransporter antibody; OCTN2 antibody; OCTN2VT antibody; Organic cation/carnitine transporter 2 antibody; S22A5_HUMAN antibody; Slc22a5 antibody; Solute carrier family 22 (organic cation/carnitine transporter) member 5 antibody; Solute carrier family 22 member 5 antibody
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宿主:Rabbit
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反應(yīng)種屬:Human
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免疫原:Synthesized peptide derived from the Internal region of Human OCTN2.
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免疫原種屬:Homo sapiens (Human)
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標(biāo)記方式:Non-conjugated
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抗體亞型:IgG
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純化方式:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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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:Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
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產(chǎn)品提供形式:Liquid
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應(yīng)用范圍:WB, ELISA
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推薦稀釋比:
Application Recommended Dilution WB 1:500-1:2000 ELISA 1:20000 -
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:Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3.
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基因功能參考文獻(xiàn):
- When endogenous OCTN2-mediated colistin transport was inhibited by co-incubation with L-carnitine, primary mouse proximal tubular cells were fully protected from colistin toxicity PMID: 28986476
- The OCTN2 carnitine transporter is essential for retaining carnitine in the body and allowing adequate supplies to the heart and the skeletal muscle, which derive most of their energy from fat. Mutations impairing its function result in carnitine deficiency that can present early in life with hypoketotic hypoglycemia, or later in life with cardiomyopathy and sudden death from cardiac arrhythmia. Review. PMID: 26828774
- A homozygous stop variant in the SLC22A5 gene in a family with cardiomyopathy and sudden death history. PMID: 28295041
- Elucidation of GM-CSF signaling demonstrates that the cytokine causes the activation of mTOR kinase, leading to the phosphorylation and activation of STAT3, which, in turn, is responsible for OCTN2 transcription. PMID: 27733576
- dissociation of bound substrate from the transporter is rate limiting in establishing maximal rates of OCT2-mediated transport PMID: 28615288
- It is postulated that ZO-1, when not phosphorylated by PKC, keeps Octn2 in an active state, while elimination of this binding in DeltaPDZ mutant or after ZO-1 phosphorylation leads to diminution of Octn2 activity. PMID: 28257821
- Results confirmed the diagnosis of eight patients with systemic primary carnitine deficiency (CDSP) on the gene level, including six mutations found in the solute carrier family 22 member 5 (SLC22A5) gene. PMID: 28186590
- Our results suggest that a common promoter haplotype of OCTN2 regulates the transcriptional rate of OCTN2 and influences the clinical course of CD. PMID: 26965072
- The local genotype influences methylation levels at SLC22A5 and ZPBP2 promoters independently of the asthma status. Further studies are necessary to confirm the relationship between GSDMA-ZPBP2 and SLC22A5 methylation and asthma in females and males separately. PMID: 26671913
- The results of the current study demonstrated that -207C>G polymorphism of the SLC22A5 gene is not associated with male infertility. PMID: 26370461
- c.760C>T (p.R254X) mutation of the SLC22A5 gene is associated with the primary carnitine deficiency. PMID: 26252091
- Human OCTN2 expression is directly regulated by PPAR-alpha. PMID: 25299939
- Nine novel SLC22A5 gene mutations were identified and characterized in Chinese patients with Systemic primary carnitine deficiency CDSP. The R254X mutation was the most frequent, and it could likely be an ethnic founder mutation. PMID: 25132046
- A novel in-frame deletion (p.F23del), and a novel nonsense mutation (p.Q180X) result in primary carnitine deficiency. PMID: 23379544
- Mutation analysis of the gene SLC22A5 confirms the diagnosis of primary systemic carnitine deficiency. PMID: 22260907
- OCTN2 is involved in L-carnitine transport at the human BBB. PMID: 23877104
- Mutations in SLC22A5 and ETFDH are associated with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency. PMID: 25119904
- promoter methylation is responsible for epigenetic down-regulation of OCTN2 in HepG2 and LS174T cells. PMID: 24146874
- The OCTN2 transporter is generally down-regulated in virus and nonvirus-mediated epithelial cancers, probably via methylation of its promoter region. PMID: 22374795
- Besides the dramatic decrease of free carnitine, carnitine ester metabolism is affected in OCTN2 deficiency in a family with a deletion of 844C of the SLC22A5 gene PMID: 19238580
- SLC22A5 is an estrogen-dependent gene regulated via a newly identified intronic estrogen response element. PMID: 22212555
- Findings indicate that etoposide can inhibit hOCTN2 function, potentially disturb carnitine homeostasis. PMID: 22389472
- OCTN2 polymorphisms were not significantly associated with either cancer risk or progression. PMID: 21793125
- Fibroblasts from asymptomatic women have on average higher levels of residual carnitine transport activity as compared to that of symptomatic patients due to the presence of at least one missense SLC22A5 mutation. PMID: 21922592
- There is not any significant correlation of SLC22A5 polymorphisms with Crohn's disease. PMID: 22118696
- Carnitine organic cation transporters 2 downregulation is associated with ulcerative colitis. PMID: 21910182
- impaired plasma membrane targeting of the D122Y and K302E-hOCTN2 variants that occur in Singaporean populations contributes to decreased carnitine influx. PMID: 21864509
- the whole expression level of OCTN2 messenger RNA at the inflamed mucosa was significantly reduced compared to noninflamed areas, both in Crohn's Disease and ulcerative colitis patients PMID: 21287663
- OCTN1 and OCTN2 both transport oxaliplatin and are functionally expressed by dorsal root ganglion neurons. PMID: 21606177
- Under hypoxic conditions, placental OCTN2 is down-regulated through PPARalpha-mediated pathways. PMID: 21125992
- OCTN2 mutations are associated with primary carnitine deficiency. PMID: 21126579
- The entire coding regions of the OCTN2 gene were sequenced in 143 unrelated subjects suspected of having Systemic primary carnitine deficiency. PMID: 20574985
- analysis of plasma carnitine ester profiles in Crohn's disease and ulcerative colitis patients with different IGR2230a_1 genotypes PMID: 19735486
- has functional sites for carnitine and Na(+) and carnitine-binding site is involved, in part, in the recognition of organic cations PMID: 12183691
- novel missense mutations in the OCTN2 gene (1340A >G and 83G>T) were found in two Saudi patients with sytemic carnitine deficiency PMID: 12408185
- Demonstration that l-carnitine uptake in differentiated Caco-2 cells is primarily mediated by OCTN2, located on the brush border membrane PMID: 12684216
- downregulated in elderly persons and in myelodysplastic syndrome patients; reduction was more than 85% compared to younger adults PMID: 12802501
- multiple domains of the OCTN2 transporter are required for carnitine transport PMID: 14506273
- tyrosine residues are involved in coupling the sodium electrochemical gradient to transmembrane solute transfer in the sodium-dependent co-transporter OCTN2 PMID: 14665638
- a G-->C transversion in trhe promoter of SLC22A5 is associated with Crohn disease PMID: 15107849
- The reported properties of OCTN2 resemble those observed for l-carnitine uptake in placental brush border vesicles, suggesting that OCTN2 may mediate most maternofetal carnitine transport in humans. PMID: 15238359
- truncating R254X mutation in the OCTN2 gene found in a Saudi Arabian kindred suggesting that it may be a recurrent mutation or a very ancient founder mutation PMID: 15303004
- OCTN2 is localized in the apical membrane of syncytiotrophoblasts, suggesting a major role in the uptake of carnitine during fetal development. PMID: 15486076
- homozygous deletion of 17081C of the SLC22A5 gene that results in a frameshift at R282D and leads ultimately to a premature stop codon (V295X) in the OCTN2 carnitine transporter in children with cardiomyopathy and decreased plasma carnitine PMID: 15487009
- Carnitine transport by OCTN2 requires functional linkage between transmembrane domains (TMD) 1-7 and TMD11. PMID: 15499185
- Double transfection of OCTN2 with PDZK1 stimulated the uptake by OCTN2 of its endogenous substrate carnitine. PMID: 15523054
- 8 new mutations were found: V153fsX193, W275X, R289X, 1267del+3_+23, M1I, T232M, T468R. PMID: 15714519
- OCTN2 is expressed in the human heart and can be modulated by drug administration. Moreover, OCTN2 can contribute to the cardiac uptake of cardiovascular drugs PMID: 16490820
- none of the 4 haplotypes present in the SLC22A4/SLC22A5 region in 5q31 showed significant association with rheumatoid arthritis in our Spanish cohort PMID: 16652416
- Association of type 1 diabetes of single nucleotide polymorphism mapping to SLC22A5 gene. PMID: 16796743
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相關(guān)疾病:Systemic primary carnitine deficiency (CDSP)
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亞細(xì)胞定位:Membrane; Multi-pass membrane protein.
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蛋白家族:Major facilitator (TC 2.A.1) superfamily, Organic cation transporter (TC 2.A.1.19) family
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組織特異性:Strongly expressed in kidney, skeletal muscle, heart and placenta. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells.
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