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MFSD8 Antibody

  • 货号：
    CSB-PA844087LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human adrenal gland tissue using CSB-PA844087LA01HU at dilution of 1:100
    • Immunofluorescent analysis of HepG2 cells using CSB-PA844087LA01HU at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L)
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) MFSD8 Polyclonal antibody
  • Uniprot No.：
    Q8NHS3
  • 基因名：
    MFSD8
  • 别名：
    Ceroid-lipofuscinosis neuronal protein 7 antibody; CLN7 antibody; Major facilitator superfamily domain-containing protein 8 antibody; MFSD8 antibody; MFSD8_HUMAN antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Major facilitator superfamily domain-containing protein 8 protein (1-40AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，MFSD8 Antibody (CSB-PA844087LA01HU)，的标记方式是Non-conjugated。对于MFSD8 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-PA844087LB01HU MFSD8 Antibody, HRP conjugated ELISA
    FITC CSB-PA844087LC01HU MFSD8 Antibody, FITC conjugated
    Biotin CSB-PA844087LD01HU MFSD8 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, IHC, IF
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:20-1:200
    IF 1:50-1:200
  • 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：
    May be a carrier that transport small solutes by using chemiosmotic ion gradients.
  • 基因功能参考文献：
    1. This study highlights a hierarchy of MFSD8 variant severity, predicting three consequences of mutation: (1) nonsyndromic localized maculopathy, (2) nonsyndromic widespread retinopathy, or (3) syndromic neurological disease. PMID: 28586915
    2. MFSD8 genetic testing should also be considered in patients with Rett like phenotype at onset and negative MECP2 mutation PMID: 25439737
    3. A mutation in MFSD8, c.472G>A (p.Gly158Ser), segregates with the disease phenotype in variant late infantile neuronal ceroid lipofuscinosis. PMID: 25270050
    4. In this study, we identified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement. PMID: 25227500
    5. This study showed that Gene disruption of Mfsd8 provides animal model for CLN7 disease. PMID: 24423645
    6. Expression and lysosomal targeting of CLN7 are reported. PMID: 20826447
    7. MFSD8 gene is involved in late-infantile-onset neuronal ceroid lipofuscinose;it was mapped to chromosome 4q28.1-q28.2. PMID: 17564970
    8. Results describe a novel mutation in the MFSD8 gene, responsible for neuronal ceroid lipofuscinoses, in a consanguineous Egyptian family PMID: 18850119
    9. Study contributes to a better molecular characterization of Italian NCL cases, and will facilitate medical genetic counseling in such families. PMID: 19177532
    10. CLN7/MFSD8 defects are not restricted to the Turkish population, as initially anticipated, but are a relatively common cause of NCL in different populations. PMID: 19201763
    11. Data show that neuronal ceroid lipofuscinosis in a Saudi family is due to a homozygous novel mutation in the most recently described NCL gene (MFSD8). PMID: 19277732

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  • 相关疾病：
    Ceroid lipofuscinosis, neuronal, 7 (CLN7); Macular dystrophy with central cone involvement (CCMD)
  • 亚细胞定位：
    Lysosome membrane; Multi-pass membrane protein. Note=Sorting to lysosomes involves tyrosine- and/or dileucine-based motifs.
  • 蛋白家族：
    Major facilitator superfamily
  • 组织特异性：
    Expressed at very low levels in all tissues tested.
  • 数据库链接：

    HGNC: 28486

    OMIM: 610951

    KEGG: hsa:256471

    STRING: 9606.ENSP00000296468

    UniGene: Hs.480701