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MFSD8 Antibody, FITC conjugated

  • 中文名稱：
    MFSD8兔多克隆抗體, FITC偶聯(lián)
  • 貨號：
    CSB-PA844087LC01HU
  • 規(guī)格：
    ￥880
  • 其他：

產(chǎn)品詳情

  • 產(chǎn)品名稱：
    Rabbit anti-Homo sapiens (Human) MFSD8 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    MFSD8
  • 別名：
    Ceroid-lipofuscinosis neuronal protein 7 antibody; CLN7 antibody; Major facilitator superfamily domain-containing protein 8 antibody; MFSD8 antibody; MFSD8_HUMAN antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human
  • 免疫原：
    Recombinant Human Major facilitator superfamily domain-containing protein 8 protein (1-40AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標記方式：
    FITC
  • 克隆類型：
    Polyclonal
  • 抗體亞型：
    IgG
  • 純化方式：
    >95%, Protein G purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 產(chǎn)品提供形式：
    Liquid
  • 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(chǎn)品評價

靶點詳情

  • 功能：
    May be a carrier that transport small solutes by using chemiosmotic ion gradients.
  • 基因功能參考文獻：
    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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  • 相關(guān)疾病：
    Ceroid lipofuscinosis, neuronal, 7 (CLN7); Macular dystrophy with central cone involvement (CCMD)
  • 亞細胞定位：
    Lysosome membrane; Multi-pass membrane protein. Note=Sorting to lysosomes involves tyrosine- and/or dileucine-based motifs.
  • 蛋白家族：
    Major facilitator superfamily
  • 組織特異性：
    Expressed at very low levels in all tissues tested.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 28486

    OMIM: 610951

    KEGG: hsa:256471

    STRING: 9606.ENSP00000296468

    UniGene: Hs.480701