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SLC16A12 Antibody

  • 货号：
    CSB-PA585733
  • 规格：
    ￥1100
  • 图片：
    • The image on the left is immunohistochemistry of paraffin-embedded Human liver cancer tissue using CSB-PA585733(SLC16A12 Antibody) at dilution 1/30, on the right is treated with synthetic peptide. (Original magnification: ×200)
  • 其他：

产品详情

  • Uniprot No.：
    Q6ZSM3
  • 基因名：
    SLC16A12
  • 别名：
    SLC16A12 antibody; MCT12 antibody; Monocarboxylate transporter 12 antibody; MCT 12 antibody; Creatine transporter 2 antibody; CRT2 antibody; Solute carrier family 16 member 12 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Synthetic peptide of Human SLC16A12
  • 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 1:1000-1:2000
    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：
    Proton-linked monocarboxylate transporter that mediates creatine transport across the plasma membrane.
  • 基因功能参考文献：
    1. We screened the coding exons of the gene SLC16A12 in 877 patients. Their impact on creatine transport was tested in Xenopus laevis oocytes and human HEK293T cells. Four variants (p.Ser158Pro, p.Gly205Val, p.Pro395Gln and p.Ser453Arg) displayed severe reduction in both model systems. Our findings provide insight into molecular requirements of creatine transporter. PMID: 29088427
    2. our data indicate that MCT12 functions as a basolateral exit pathway for creatine in the proximal tubule. Heterozygous mutation of MCT12 affects systemic levels and renal handling of guanidinoacetate, possibly through an indirect mechanism. Furthermore, our data reveal a digenic syndrome in the index family, with simultaneous MCT12 and SGLT2 mutation. Thus, glucosuria is not part of the MCT12 mutation syndrome PMID: 26376857
    3. study identified a second creatine transporter monocarboxylate transporter 12 (MCT12), encoded by the cataract and glucosuria associated gene SLC16A12; Rssults show SLC6A8 was predominantly found in brain, heart and muscle, while SLC16A12 was more abundant in kidney and retina. In the lens, the two transcripts were found at comparable levels. PMID: 23578822
    4. The monocarboxylate transporter SLC16A12 may contribute to age-related cataract. Sequences within the 5'UTR modulate translational efficiency with pathogenic consequences. PMID: 20181839
    5. Observational study of gene-disease association. (HuGE Navigator) PMID: 20181839
    6. SLC16A12 is important for lens and kidney homeostasis; its potential role in age-related cataract is discussed. PMID: 18304496
    7. Observational study of gene-disease association. (HuGE Navigator) PMID: 16385451

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  • 相关疾病：
    Cataract 47 (CTRCT47)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Major facilitator superfamily, Monocarboxylate porter (TC 2.A.1.13) family
  • 组织特异性：
    Most highly expressed in kidney, followed by retina, lung, heart and testis. Very weakly expressed in brain and liver. Also detected in lens.
  • 数据库链接：

    HGNC: 23094

    OMIM: 611910

    KEGG: hsa:387700

    STRING: 9606.ENSP00000360855

    UniGene: Hs.530338