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  4. Recombinant Human B (0,+)-type amino acid transporter 1 (SLC7A9), partial

Recombinant Human B (0,+)-type amino acid transporter 1 (SLC7A9), partial

  • 中文名稱：
    人SLC7A9重組蛋白
  • 貨號：
    CSB-YP021722HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人SLC7A9重組蛋白
  • 貨號：
    CSB-EP021722HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人SLC7A9重組蛋白
  • 貨號：
    CSB-EP021722HU-B
  • 規格：
  • 來源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱：
    人SLC7A9重組蛋白
  • 貨號：
    CSB-BP021722HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人SLC7A9重組蛋白
  • 貨號：
    CSB-MP021722HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    SLC7A9
  • Uniprot No.：
  • 別名：
    SLC7A9; BAT1b(0,+)-type amino acid transporter 1; b(0,+)AT1; Glycoprotein-associated amino acid transporter b0,+AT1; Solute carrier family 7 member 9
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 復溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

產品評價

相關產品

靶點詳情

  • 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.
  • 基因功能參考文獻：
    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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  • 相關疾病：
    Cystinuria (CSNU)
  • 亞細胞定位：
    Apical cell membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Amino acid-polyamine-organocation (APC) superfamily
  • 組織特異性：
    Expressed in the brush border membrane in the kidney (at protein level). Kidney, small intestine, liver and placenta.
  • 數據庫鏈接：

    HGNC: 11067

    OMIM: 220100

    KEGG: hsa:11136

    STRING: 9606.ENSP00000023064

    UniGene: Hs.743345



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