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SLC24A5 Antibody

  • 货号：
    CSB-PA754654LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Western Blot
      Positive WB detected in: HepG2 whole cell lysate, A549 whole cell lysate, MCF-7 whole cell lysate
      All lanes: SLC24A5 antibody at 2.5µg/ml
      Secondary
      Goat polyclonal to rabbit IgG at 1/50000 dilution
      Predicted band size: 55, 49 kDa
      Observed band size: 55 kDa
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) SLC24A5 Polyclonal antibody
  • Uniprot No.：
    Q71RS6
  • 基因名：
    SLC24A5
  • 别名：
    Ion transporter JSX antibody; JSX antibody; Na(+)/K(+)/Ca(2+)-exchange protein 5 antibody; NCKX5 antibody; NCKX5_HUMAN antibody; Slc24a5 antibody; Sodium/potassium/calcium exchanger 5 antibody; Solute carrier family 24 (sodium/potassium/calcium exchanger),member 5 antibody; Solute carrier family 24 member 5 antibody; Solute carrier family 24,member 5 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Sodium/potassium/calcium exchanger 5 protein (240-298AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，SLC24A5 Antibody (CSB-PA754654LA01HU)，的标记方式是Non-conjugated。对于SLC24A5 Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA754654LB01HU SLC24A5 Antibody, HRP conjugated ELISA
    FITC CSB-PA754654LC01HU SLC24A5 Antibody, FITC conjugated
    Biotin CSB-PA754654LD01HU SLC24A5 Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, WB
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:5000
  • 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：
    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