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  4. SLC35A1 Antibody

SLC35A1 Antibody

  • 中文名稱：
    SLC35A1兔多克隆抗體
  • 貨號：
    CSB-PA021583GA01HU
  • 規格：
    ￥3,900
  • 其他：

產品詳情

  • Uniprot No.：
  • 基因名：
    SLC35A1
  • 別名：
    CMP-SA-Tr antibody; CMP-Sia-Tr antibody; CMP-sialic acid transporter antibody; S35A1_HUMAN antibody; Slc35a1 antibody; Solute carrier family 35 member A1 antibody
  • 宿主：
    Rabbit
  • 反應種屬：
    Human,Mouse,Rat
  • 免疫原：
    Human SLC35A1
  • 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,IHC
  • 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：
    Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function. Efficient CMP-sialic acid uptake depends on the presence of free CMP inside the vesicles, suggesting the proteins functions as an antiporter. Binds both CMP-sialic acid and free CMP, but has higher affinity for free CMP.
  • 基因功能參考文獻：
    1. We performed exome sequencing on an individual with a profound neurological presentation and identified rare compound heterozygous mutations, p.Thr156Arg and p.Glu196Lys, in the CMP-sialic acid transporter, SLC35A1. Patient primary fibroblasts and serum showed a considerable decrease in the amount of N- and O-glycans terminating in sialic acid PMID: 28856833
    2. the SLC35A1 generates additional isoforms through alternative splicing. PMID: 27387429
    3. SLC35A1-deficient cells lack of alpha-dystroglycan O-mannosylation, ligand binding and incorporation of sialic acids. PMID: 25552652
    4. We confirm an autosomal recessive, generalized sialylation defect due to mutations in SLC35A1 PMID: 23873973
    5. substrate binding specificity PMID: 12682060
    6. this defect is a new type of congenital disorder of glycosylation (CDG) of type IIf affecting the transport of CMP-sialic acid into the Golgi apparatus. PMID: 15576474
    7. this study, we introduced two critical genes encoding human CMP-N-acetylneuraminic acid synthetase and CMP-sialic acid transporter into tobacco suspension-cultured cell to pave a route for sialic biosynthetic pathway. PMID: 16343442
    8. CMP-sialic acid transporter is localized in the medial-trans Golgi PMID: 16923816

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  • 相關疾病：
    Congenital disorder of glycosylation 2F (CDG2F)
  • 亞細胞定位：
    Golgi apparatus membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Nucleotide-sugar transporter family, SLC35A subfamily
  • 數據庫鏈接：

    HGNC: 11021

    OMIM: 603585

    KEGG: hsa:10559

    STRING: 9606.ENSP00000358565

    UniGene: Hs.423163



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