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

GBE1 Antibody, FITC conjugated

  • 中文名稱:
    GBE1兔多克隆抗體, FITC偶聯(lián)
  • 貨號:
    CSB-PA754361LC01HU
  • 規(guī)格:
    ¥880
  • 其他:

產(chǎn)品詳情

  • 產(chǎn)品名稱:
    Rabbit anti-Homo sapiens (Human) GBE1 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    GBE1
  • 別名:
    1,4-alpha-glucan-branching enzyme (EC 2.4.1.18) (Brancher enzyme) (Glycogen-branching enzyme), GBE1
  • 宿主:
    Rabbit
  • 反應(yīng)種屬:
    Human
  • 免疫原:
    Recombinant Human 1,4-alpha-glucan-branching enzyme protein (1-300aa)
  • 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:
    Required for normal glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule.
  • 基因功能參考文獻:
    1. Case Report: novel heterozygous variant (c.760A>G; p.Thr254Ala) in exon 6 of the GBE1 gene resulting in glycogen storage disease type IV. PMID: 27107456
    2. The crystal structure of GBE1 in complex with oligosaccharides was determined, the structural and molecular bases of Adult Polyglucosan Body Disease-linked missense mutations was investigated. PMID: 26199317
    3. The presence of polyglucosan bodies in intramuscular nerve twigs by itself and is not an indication of APBD mutation. PMID: 26670585
    4. GBE1 mutation is found in manifesting heterozygous patients with adult polyglucosan body disease PMID: 25665141
    5. Case Reports: novel missense/deletion mutations in GBE1 in glycogen storage disease type IV. PMID: 20058079
    6. GBE1 mutations can cause an early adult-onset relapsing-remitting form of polyglucosan body disease distinct from adult polyglucosan body disease in several ways, including younger age at onset. PMID: 24248152
    7. Compound heterozygous mutations in GBE1 were identified as the cause of lethal multiple pterygium syndrome in a family. PMID: 23218673
    8. this is the first epidemiologic study of the mutation frequency of the adult polyglucosan body disease -associated GBE1 mutation c.1076A>C in a large Ashkenazi Jewish cohort. PMID: 22943850
    9. APBD with GBE deficiency is a clinically homogenous disorder that should be suspected in patients with adult onset leukodystrophy or spastic paraplegia with early onset of urinary symptoms and spinal atrophy. PMID: 23034915
    10. A review of the literature for glycogen storage disease type IV patients with characterized molecular defects and deficient enzyme activity reveals most GBE1 mutations to be missense mutations clustering in the catalytic enzyme domain. PMID: 22305237
    11. Case Report: report an as yet undefined and different phenotype of glycogen storage disease with diminished branching enzyme activity associated with multisystemic involvement. PMID: 18392749
    12. GYS1 regulation by HIF plays a central role in the hypoxic accumulation of glycogen, and hypoxia also upregulates the expression of UTP:glucose-1-phosphate urydylyltransferase (UGP2) and 1,4-alpha glucan branching enzyme (GBE1) PMID: 20300197
    13. Nine novel GBE1 mutations were identified, including nonsense, missense, deletion, insertion, and splice-junction mutations. Implications for protein structure and interactions were modeled. PMID: 15452297
    14. Mutations in the GBE1 gene, located on chromosome 3, have been identified in phenotypes of glycogenosis 4. PMID: 17915577
    15. brain white matter degeneration in APBD may result from tissue damage involving axons and myelin in GBE missense mutation PMID: 17994551
    16. A c.1558delC frame shift mutation in exon 12 and a c.1999C>T mutation in exon 14 of the GBE1 gene were observed in a neonate with glycogen storage disease type IV. PMID: 18289670

    顯示更多

    收起更多

  • 相關(guān)疾病:
    Glycogen storage disease 4 (GSD4); Polyglucosan body neuropathy, adult form (APBN)
  • 蛋白家族:
    Glycosyl hydrolase 13 family, GlgB subfamily
  • 數(shù)據(jù)庫鏈接:

    HGNC: 4180

    OMIM: 232500

    KEGG: hsa:2632

    STRING: 9606.ENSP00000410833

    UniGene: Hs.436062



主站蜘蛛池模板: 西西人体www44rt大胆高清 | 又大又粗弄得我出好多水| 国产成人一区二区三区别| 久久精品国产99久久香蕉| 午夜福利视频一区二区手机免费看| 麻豆国产av超爽剧情系列| 亚洲精品国产精品国自产| 国产精成人品一区| 人人玩人人添人人澡欧美| 内射白嫩少妇超碰| 天堂在线观看www| 日本高清熟妇老熟妇| 亚洲日韩va在线视频| 日韩人妻无码免费视频一区二区三区 | 天堂网www最新版官网| 国产精品无码av一区二区三区 | 美女张开腿让人桶| 亚洲精品成人网站在线播放| 色av专区无码影音先锋| 精品国产人妻一区二区三区| 永久免费观看美女裸体的网站| 国产在线无码视频一区二区三区| 久久久久av无码免费网| 午夜成人理论福利片| 五月丁香六月激情综合在线视频 | 手机真实国产乱子伦对白视频| 综合网日日天干夜夜久久| 在线天堂新版最新版在线8| 久久精品国产只有精品2020| 极品少妇小泬50pthepon| 免费观看全黄做爰的视频| 精品国产丝袜自在线拍国语| 久久久久亚洲精品成人网 | 成人爽a毛片免费看| 国产成人啪精品午夜网站a片免费| 精品无码国产av一区二区| 国产丝袜无码一区二区视频| 国产女人叫床高潮大片| 狠狠色综合tv久久久久久| 国产成人久久a免费观看| 色偷偷偷久久伊人大杳蕉|