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  4. Recombinant Human Sodium/potassium/calcium exchanger 5 (SLC24A5), partial

Recombinant Human Sodium/potassium/calcium exchanger 5 (SLC24A5), partial

  • 货号：
    CSB-YP754654HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP754654HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP754654HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    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：
  • 货号：
    CSB-BP754654HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP754654HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    SLC24A5
  • Uniprot No.：
  • 别名：
    Ion transporter JSX; JSX; Na(+)/K(+)/Ca(2+)-exchange protein 5; NCKX5; NCKX5_HUMAN; Slc24a5; Sodium/potassium/calcium exchanger 5; Solute carrier family 24 (sodium/potassium/calcium exchanger),member 5; Solute carrier family 24 member 5; Solute carrier family 24,member 5
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    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.
  • 产品提供形式：
    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.
  • 复溶：
    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.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    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.
  • 注意事项：
    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.

产品评价

靶点详情

  • 功能：
    Cation exchanger involved in pigmentation, possibly by participating in ion transport in melanosomes. Predominant sodium-Calcium exchanger in melanocytes. Probably transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+).
  • 基因功能参考文献：
    1. both polymorphisms (rs1426654 and rs2470102) play an important role in the skin pigmentation diversity of South Asians PMID: 27866970
    2. Letter/Case Report: OCA6 mutation in 6 year old boy with oculocutaneous albinism. PMID: 26686029
    3. mutations in SLC24A4 and SLC24A5 are responsible for the phenotypic defects observed in human amylogenesis imperfecta and non-syndromic oculocutaneous albinism patients. PMID: 27129268
    4. a novel homozygous mutation in SLC24A5 in two patients from French Guiana strengthens the importance of screening this gene in oculocutaneous albinism patients. PMID: 26491832
    5. the SLC24A5 gene locus known to be associated with skin pigmentation was in the top selection signals in the Wolaita, and the alleles of single-nucleotide polymorphisms rs1426654 and rs1834640 (SLC24A5) associated with light skin pigmentation PMID: 25370040
    6. Polymorphisms of SLC24A5 were found to be associated with skin, hair, and eye color in a phenotypically diverse Brazilian population, considered useful in forensic science for crime investigation and facial reconstruction in unknown bodies. PMID: 25801600
    7. All chromosomes carrying the A111T allele of SLC24A5 gene share a single 78-kb haplotype indicating that all instances of this mutation in human populations share a common origin. PMID: 24048645
    8. Sequencing 11.74 kb of SLC24A5 in 95 individuals worldwide reveals that the rs1426654-A alleles in South Asian and West Eurasian populations are monophyletic and occur on the background of a common haplotype that is characterized by low genetic diversity PMID: 24244186
    9. We observed a heterogeneous phenotype among seven oculocutaneous albinism patients with SLC24A5 mutations. PMID: 23985994
    10. SLC24A5 is a previously unreported nonsyndromic oculocutaneous albinism candidate gene. PMID: 23364476
    11. NCKX5, a natural regulator of human skin colour variation, regulates the expression of key pigment genes MC1R and alpha-MSH and alters cholesterol homeostasis in normal human melanocytes. PMID: 23224873
    12. Observational study of gene-disease association. (HuGE Navigator) PMID: 20691427
    13. the variant allele is associated with a substantial reduction in regional heterozygosity, and correlates with lighter skin pigmentation in admixed populations, suggesting a key role for the SLC24A5 gene in human pigmentation PMID: 16357253
    14. The p.L374F allele in SLC45A2 is a more specific ancestry informative marker than the p.A111T allele in SLC24A5, as it clearly distinguishes Sri Lankans from Europeans. PMID: 16847698
    15. non-synonymous single nucleotide polymorphism in SLC24A5 alters a residue that is important for NCKX5 and NCKX2 activity PMID: 18166528
    16. Greek subjects showed a prevalence of the Thr(111) allele variant of the SLC24A5 gene, even among subjects with darker skin pigmentation or phototype. PMID: 18637132
    17. higher tyrosinase protein abundance was not observed for any NCKX5-111 allele variation PMID: 18650849
    18. Observational study of gene-disease association. (HuGE Navigator) PMID: 19944766
    19. Observational study of gene-disease association. (HuGE Navigator) PMID: 19384953
    20. Observational study of gene-disease association. (HuGE Navigator) PMID: 19336370
    21. Observational study of gene-disease association. (HuGE Navigator) PMID: 19060277
    22. Observational study of gene-disease association. (HuGE Navigator) PMID: 18637132
    23. Observational study of gene-disease association. (HuGE Navigator) PMID: 17999355
    24. The NCKX5 protein, encoded by the SLC24A5 gene, is localized to the trans-Golgi network where it may influence melanosomal assembly. The SLC24A5 allele encoding threonine-111 confers reduced NCKX5 activity. PMID: 18166528

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  • 相关疾病：
    Albinism, oculocutaneous, 6 (OCA6)
  • 亚细胞定位：
    Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Melanosome. Note=Enriched in late-stage melanosomes (PubMed:17081065).
  • 蛋白家族：
    Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family, SLC24A subfamily
  • 数据库链接：

    HGNC: 20611

    OMIM: 113750

    KEGG: hsa:283652

    STRING: 9606.ENSP00000341550

    UniGene: Hs.710240