在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

MFSD8 Antibody, HRP conjugated

  • 中文名稱:
    MFSD8兔多克隆抗體, HRP偶聯
  • 貨號:
    CSB-PA844087LB01HU
  • 規格:
    ¥880
  • 其他:

產品詳情

  • 產品名稱:
    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:
    HRP
  • 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
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA
  • 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:
    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

    顯示更多

    收起更多

  • 相關疾病:
    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.
  • 數據庫鏈接:

    HGNC: 28486

    OMIM: 610951

    KEGG: hsa:256471

    STRING: 9606.ENSP00000296468

    UniGene: Hs.480701



主站蜘蛛池模板: 天堂网在线观看| 中国孕妇变态孕交xxxx| 精品无码乱码av| 精品麻豆丝袜高跟鞋av| 婷婷国产成人精品视频| 最新国产成人无码久久| 国产99久9在线视频 | 传媒| 精品久久久久久无码人妻| 色在线 | 国产| 情侣激情18内射骚话国产| 亚洲国产激情一区二区三区| 国产一区二区精品久久岳| 国产乱人伦精品一区二区| 久久99国产精品久久99| 污污网站18禁在线永久免费观看 | 成人精品天堂一区二区三区| 亚洲色大成网站www永久在线观看| 女性自慰网站免费看ww| 精品视频无码一区二区三区| 肉岳疯狂69式激情的高潮 | 亚洲男女一区二区三区| 肉体裸交137日本大胆摄影| 天天摸天天摸天天天天看| 在线观看一区二区三区国产免费| 亚洲日韩va无码中文字幕| 亚州av综合色区无码一区| 怡红院av亚洲一区二区三区h| 一区二区三区无码按摩精油| 国产精品不卡无码av在线播放| www国产亚洲精品| 一本大道熟女人妻中文字幕在线| 亚洲大码熟女在线| 亚洲国产av导航第一福利网| 噜噜噜av久久| 香蕉噜噜噜噜私人影院| 天天狠天天透天干天干| 精品国产不卡一区二区三区| 久久99国产精品久久99果冻传媒| 荫道bbwbbb高潮潮喷 | 久久aⅴ无码av高潮av喷吹 | 国产亚洲精品自在久久|