SLC6A19 Antibody
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货号:CSB-PA129068
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规格:¥1100
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图片:
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其他:
产品详情
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Uniprot No.:Q695T7
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基因名:SLC6A19
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别名:SLC6A19 antibody; B0AT1 antibody; Sodium-dependent neutral amino acid transporter B(0)AT1 antibody; Solute carrier family 6 member 19 antibody; System B(0) neutral amino acid transporter AT1 antibody
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宿主:Rabbit
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反应种属:Human
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免疫原:Synthetic peptide of Human SLC6A19
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免疫原种属:Homo sapiens (Human)
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标记方式:Non-conjugated
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抗体亚型:IgG
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纯化方式:Antigen affinity purification
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浓度:It differs from different batches. Please contact us to confirm it.
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保存缓冲液:-20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
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产品提供形式:Liquid
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应用范围:ELISA,IHC
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推荐稀释比:
Application Recommended Dilution ELISA 1:2000-1:5000 IHC 1:25-1:100 -
Protocols:
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储存条件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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货期: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.
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靶点详情
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功能:Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells. This uptake is sodium-dependent and chloride-independent. Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity.
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基因功能参考文献:
- SIT1, B(0)AT1 and ACE2 were co-localized in the brush-border membrane of small intestine enterocytes. PMID: 25534429
- PKB/Akt up-regulates SLC6A19 activity, which may foster amino acid uptake into PKB/Akt-expressing epithelial and tumor cells. PMID: 23234856
- JAK2 up-regulates SLC6A19 activity which may foster amino acid uptake into JAK2 expressing cells. PMID: 21964291
- Average loss of solute carrier expression was similar in acute tubular necrosis (77%) and T cell-mediated rejection (75%) with high correlation of individual transcripts. PMID: 20883558
- A novel SLC6A19 gene mutation is associated with late-onset seizures in a Korean patient with Hartnup disorder. PMID: 20399395
- We identified six mutations in SLC6A19 that cosegregated with disease in the predicted recessive manner, with most affected individuals being compound heterozygotes. PMID: 15286788
- One mutation, the D173N allele, is present in 42% of Hartnup chromosomes from apparently unrelated families from both Australia and North America. PMID: 17555458
- Hartnup disorder is allelically heterogeneous with two mutated SLC6A19 allele. PMID: 18484095
- These findings suggest that the rare SLC6A19-MS7 allele may be a risk factor for hypertension. PMID: 18671945
- Suggest that amino acid transporters B(0)AT1 and b(0,+)AT are involved in the reabsorption of L-citrulline in the kidney, at least in part, by mediating the apical membrane transport of L-citrulline in renal tubule cells. PMID: 19322909
- novel homozygous mutation of G284R in the transmembrane domain of the SLC6A19 transporter found in the proband, with typical dermatologic and neurologic manifestations and increased levels of urinary neutral amino acids PMID: 19335424
- Observational study of gene-disease association. (HuGE Navigator) PMID: 18671945
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相关疾病:Hartnup disorder (HND); Hyperglycinuria (HG); Iminoglycinuria (IG)
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亚细胞定位:Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein.
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蛋白家族:Sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family, SLC6A19 subfamily
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组织特异性:Robust expression in kidney and small intestine, with minimal expression in pancreas. Also expressed in stomach, liver, duodenum, ileocecum, colon and prostate. Not detected in testis, whole brain, cerebellum, fetal liver, spleen, skeletal muscle, uterus,
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数据库链接:
HGNC: 27960
OMIM: 138500
KEGG: hsa:340024
STRING: 9606.ENSP00000305302
UniGene: Hs.481478
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