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SLC16A12 Antibody

  • 中文名稱:
    SLC16A12兔多克隆抗體
  • 貨號:
    CSB-PA021406GA01HU
  • 規格:
    ¥3,900
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
    SLC16A12
  • 別名:
    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
  • 反應種屬:
    Human,Mouse,Rat
  • 免疫原:
    Human SLC16A12
  • 免疫原種屬:
    Homo sapiens (Human)
  • 抗體亞型:
    IgG
  • 純化方式:
    Antigen Affinity purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA,WB
  • Protocols:
  • 儲存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    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.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

  • 功能:
    Proton-linked monocarboxylate transporter that mediates creatine transport across the plasma membrane.
  • 基因功能參考文獻:
    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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  • 相關疾?。?/div>
    Cataract 47 (CTRCT47)
  • 亞細胞定位:
    Cell membrane; Multi-pass membrane protein.
  • 蛋白家族:
    Major facilitator superfamily, Monocarboxylate porter (TC 2.A.1.13) family
  • 組織特異性:
    Most highly expressed in kidney, followed by retina, lung, heart and testis. Very weakly expressed in brain and liver. Also detected in lens.
  • 數據庫鏈接:

    HGNC: 23094

    OMIM: 611910

    KEGG: hsa:387700

    STRING: 9606.ENSP00000360855

    UniGene: Hs.530338



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