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SLC7A9 Antibody

  • 中文名称：
    SLC7A9兔多克隆抗体
  • 货号：
    CSB-PA146812
  • 规格：
    ￥1100
  • 图片：
    • The image on the left is immunohistochemistry of paraffin-embedded Human liver cancer tissue using CSB-PA146812(SLC7A9 Antibody) at dilution 1/35, on the right is treated with synthetic peptide. (Original magnification: ×200)
    • The image on the left is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using CSB-PA146812(SLC7A9 Antibody) at dilution 1/35, on the right is treated with synthetic peptide. (Original magnification: ×200)
  • 其他：

产品详情

  • Uniprot No.：
    P82251
  • 基因名：
    SLC7A9
  • 别名：
    SLC7A9 antibody; BAT1b(0,+)-type amino acid transporter 1 antibody; b(0,+)AT1 antibody; Glycoprotein-associated amino acid transporter b0,+AT1 antibody; Solute carrier family 7 member 9 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Synthetic peptide of Human SLC7A9
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen affinity purification
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,IHC
  • 推荐稀释比：
    Application Recommended Dilution
    ELISA 1:2000-1:5000
    IHC 1:25-1:100
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 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.

产品评价

靶点详情

  • 功能：
    Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
  • 基因功能参考文献：
    1. Study shows that various computational tools were able to distinguish cystinuria-causing mutations from benign polymorphisms. Only missense mutation V142A had a benign effect on the protein structure and function of SLC7A9. The intron variant c.604+66C>G in SLC7A9 gene probably affected the splicing process. PMID: 30069816
    2. Thirteen pediatric patients with cystine stones were evaluated in our clinic between 2012 and 2015. Gene mutations in SLC3A1 and SLC7A9 were investigated PMID: 28689648
    3. Spectrum of SLC3A1 and SLC7A9 mutations in cystinuria patients presenting with prenatal hyperechoic colon has been described. PMID: 28646536
    4. Analysis showing how different mutations in SLC3A1 and SLC7A9 affect severity of cystinuria. PMID: 28812535
    5. A new variation in exon 4 of the SLC7A9 gene was identified in cystinuria patients, which was insertion of 1 adenine nucleotide between 2 cytosine nucleotides in position c.213-214insA. PMID: 28270646
    6. Five SLC3A1 and SLC7A9 mutations appear to be responsible for the genetic basis of cystinuria in the Greek-Cypriot patients PMID: 26540609
    7. G105R but not R333W mutation found in Iranian cystinuria patients PMID: 26123750
    8. Report no association of SLC7A9 mutations with clinical course of disease in cystinuria patients. PMID: 25964309
    9. Case Report: novel mutation of SLC7A9 gene in cystinuria. PMID: 25599739
    10. We present six family members with a complex phenotypic profile of cystinuria based on mutations in SLC3A1 (type A) or SLC7A9 (type B). PMID: 24045899
    11. In SLC7A9 gene, one large genomic rearrangement and 24 sequence variants are found in cystinuria patients. PMID: 21255007
    12. Studies identified 6 different alleles in SLC3A1 and 2 in SLC7A9 accounting for a total of 25 copy number changes, 11 in SLC3A1 and 14 in SLC7A9. PMID: 19782624
    13. a decreasing expression gradient of heterodimeric rBAT-b(0,+)AT along the proximal tubule is responsible for virtually all apical cystine reabsorption PMID: 12167606
    14. in cystinuria, the detection rate for mutations in SLC7A9 in children was 25% in the SLC7A9 gene for non-type I chromosomes. PMID: 12234283
    15. The finding of SLC7A9 mutations in all three subtypes underscores the complex interactions between specific cystinuria genes and other factors influencing cystine excretion. PMID: 12371955
    16. Three novel SLC7A9 mutations were identified: two missense mutations (P261L and V330M) and one single base-pair deletion (1009 delA) PMID: 12820697
    17. deletions in SLC7A9 in cystinuria PMID: 14531788
    18. Mutations of this protein have a population-specific distribution among south-east Europeans living in Germany. PMID: 14991253
    19. Mutational analysis should focus on this gene in inheritance of cytinuria. PMID: 15635077
    20. Disease: cystinuria, type non-I.Deletion codon 50. PMID: 15818799
    21. gene deletion , codon 423 in cystinuria, type non-1. PMID: 15818803
    22. SLC3A1 and SLC7A9 mutations may have roles in cystinuria PMID: 16138908
    23. Mutations of SLC7A9 for Japanese cystinuria patients are different from those reported for European and American population. PMID: 16609684
    24. all carriers of a SLC7A9 mutation manifested cystinuria if their normal allele had non-wild type nucleotides in two or more of the identified polymorphic sites PMID: 16838140
    25. a novel splice-acceptor site mutation in the SLC7A9 gene may have a role in cystinuria [case report] PMID: 17701443
    26. To characterize the clinical features and analyze the genetic basis of cystinuria in an inbred Moslem Arab Israeli family. Sequencing of this gene revealed a missense mutation, P482L, in the homozygous state in all three affected sibs PMID: 17710781
    27. Twenty-four novel mutations in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinyuria genes are reported. PMID: 18752446
    28. SLC3A1 and SLC7A9 mutations identified in 52 Greek cystinuria patients; in total 14 mutations were identified in SLC3A1 and 12 in SLC7A9. PMID: 18778962
    29. 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

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  • 相关疾病：
    Cystinuria (CSNU)
  • 亚细胞定位：
    Apical cell membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Amino acid-polyamine-organocation (APC) superfamily
  • 组织特异性：
    Expressed in the brush border membrane in the kidney (at protein level). Kidney, small intestine, liver and placenta.
  • 数据库链接：

    HGNC: 11067

    OMIM: 220100

    KEGG: hsa:11136

    STRING: 9606.ENSP00000023064

    UniGene: Hs.743345