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SLC17A5 Antibody

  • 货号：
    CSB-PA021421GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9NRA2
  • 基因名：
  • 别名：
    AST antibody; H(+)/nitrate cotransporter antibody; H(+)/sialic acid cotransporter antibody; ISSD antibody; Membrane glycoprotein HP59 antibody; NSD antibody; S17A5_HUMAN antibody; SD antibody; Sialic acid storage disease antibody; Sialin antibody; SIASD antibody; Slc17a5 antibody; SLD antibody; Solute carrier family 17 (anion/sugar transportermember 5 antibody; Solute carrier family 17 member 5 antibody; Vesicular H(+)/Aspartate-glutamate cotransporter antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human SLC17A5
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • 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：
    Transports glucuronic acid and free sialic acid out of the lysosome after it is cleaved from sialoglycoconjugates undergoing degradation, this is required for normal CNS myelination. Mediates aspartate and glutamate membrane potential-dependent uptake into synaptic vesicles and synaptic-like microvesicles. Also functions as an electrogenic 2NO(3)(-)/H(+) cotransporter in the plasma membrane of salivary gland acinar cells, mediating the physiological nitrate efflux, 25% of the circulating nitrate ions is typically removed and secreted in saliva.
  • 基因功能参考文献：
    1. study describes a novel pathogenic variant in SLC17A5, namely an intronic transposal insertion, in a patient with mild biochemical and clinical phenotypes. The presence of a small fraction of normal transcript may explain the mild phenotype. This case illustrates the importance of including lysosomal sialic acid storage disease in the differential diagnosis of developmental delay with postnatal onset and hypomyelination. PMID: 28187749
    2. Elevated levels of AST are Associated with Cardiovascular disease. PMID: 27872510
    3. These data demonstrate that sialin mediates nitrate influx into salivary gland and other cell types. PMID: 22778404
    4. the substrate-binding site of sialin (SLC17A5) PMID: 22334707
    5. Human SLC17A5 carrying mutations that causes both phenotypes of Salla disease and mutations that cause infantile sialic acid storage disease showed no transport activity PMID: 21781115
    6. analysis of crucial residues and substrate-induced conformational changes in SLC17 transporter sialin PMID: 20424173
    7. expression, localization, and targeting of the wild-type sialin, as well as two mutant polypeptides in sialic acid storage disorders PMID: 12359136
    8. In primary neuronal cultures sialin was not targeted into lysosomes but rather revealed a punctate staining along the neuronal processes and was also seen in the plasma membrane. PMID: 15006695
    9. Molecular studies showed that all four affected individuals were homozygous for the same novel 983G > A mutation in exon 8 of the SLC17A5 gene, replacing glycine with glutamic acid at position 328 of the sialin protein PMID: 15172005
    10. Two missense mutations and one small, in-frame deletion in sialin are associated with ISSD abolished transport, the mutation causing Salla disease (R39C) slowed down, but did not stop the transport cycle. PMID: 15510212
    11. there is a direct correlation between sialin function and the disease state of sialic acid storage disorders PMID: 15516337
    12. a SLC17A5 p.K136E mutation may have a role in a case of Italian severe Salla disease PMID: 16170568
    13. study assessed the effect of missense mutations in the sialin gene (G328E and G409E) and found complete loss of measurable transport activity with both and impaired trafficking of the G409E protein PMID: 17933575
    14. The lysosomal localization of human sialin was not or only partially affected by pathogenic missense mutations; in contrast, all pathogenic mutations abolished transport of sialic acid. PMID: 18399798
    15. sialin possesses dual physiological functions and acts as a vesicular aspartate/glutamate transporter PMID: 18695252
    16. Mutations in the SLC17A5 gene must be considered in two siblings with hypomyelination, even in the absence of sialuria. PMID: 19557856

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  • 相关疾病：
    Salla disease (SD); Infantile sialic acid storage disorder (ISSD)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Major facilitator superfamily, Sodium/anion cotransporter family
  • 组织特异性：
    Found in fetal lung and small intestine, and at lower level in fetal skin and muscle. In the adult, detected in placenta, kidney and pancreas. Abundant in the endothelial cells of tumors from ovary, colon, breast and lung, but is not detected in endotheli
  • 数据库链接：

    HGNC: 10933

    OMIM: 269920

    KEGG: hsa:26503

    STRING: 9606.ENSP00000348019

    UniGene: Hs.597422