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

RAB3GAP1 Antibody, FITC conjugated

  • 中文名稱:
    RAB3GAP1兔多克隆抗體, FITC偶聯
  • 貨號:
    CSB-PA621861LC01HU
  • 規格:
    ¥880
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) RAB3GAP1 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    RAB3GAP1
  • 別名:
    DKFZp434A012 antibody; KIAA0066 antibody; P130 antibody; Rab3 GAP antibody; Rab3 GAP p130 antibody; RAB3 GTPase activating protein 130 kDa subunit antibody; Rab3 GTPase activating protein catalytic subunit antibody; RAB3 GTPase activating protein subunit 1 (catalytic) antibody; RAB3 GTPase-activating protein 130 kDa subunit antibody; Rab3 GTPase-activating protein catalytic subunit antibody; Rab3-GAP antibody; Rab3-GAP p130 antibody; RAB3GAP antibody; rab3gap1 antibody; RAB3GAP130 antibody; RB3GP_HUMAN antibody; WARBM1 antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Recombinant Human Rab3 GTPase-activating protein catalytic subunit protein (527-653AA)
  • 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.

產品評價

靶點詳情

  • 功能:
    Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.
  • 基因功能參考文獻:
    1. Whole-exome sequencing, using DNA of the first fetus, was performed shortly after the birth of a male child, and two truncating RAB3GAP1 mutations were detected: c.538G>T; p. (Glu180*) and c.943C>T; p. (Arg315*). PMID: 27256633
    2. show that FOXC1 regulates the expression of RAB3GAP1, RAB3GAP2 and SNAP25 PMID: 28575017
    3. RAB18 modulates macroautophagy and proteostasis, and is dependent on activity of RAB3GAP1 and RAB3GAP2. PMID: 28342870
    4. Homozygosity mapping using single nucleotide polymorphism (SNP) microarray data to identify the causative gene in a case with Warburg Micro syndrome (WARBM). PMID: 26138576
    5. sequencing of RAB3GAP1 revealed novel compound heterozygous mutations in the siblings: a paternally inherited missense mutation (c.560G>C; p.Arg187Pro) in exon 7 and a maternally derived nonsense mutation (c.1009C>T; p.Arg337Ter) in exon 12. PMID: 26421802
    6. Warburg Micro syndrome is caused by RAB3GAP deficiency. PMID: 26063829
    7. RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy PMID: 25495476
    8. results suggest that the binding of vesicle-associated membrane protein-associated protein B(VAP-B) to Rab3 GTPase activating protein (Rab3GAP1) is implicated in the regulation of nuclear envelope formation through ER-Golgi intermediate compartment PMID: 25612670
    9. A large intragenic homozygous RAB3GAP1 microdeletion is associated with Warburg micro syndrome 1. PMID: 25332050
    10. The stage catalyzed by Rab3 is in a unidirectional, hierarchical connection in which the intra-acrosomal calcium mobilization arm was subordinated to the fusion protein arm; somewhere after Rab3, the pathways became independent. PMID: 25159528
    11. Rab18 and a Rab18 GEF complex of Rab3GAP1 and Rab3GAP2 have roles in the endoplasmic reticulum structure PMID: 24891604
    12. One-hundred and forty-four Micro and nine Martsolf families were investigated, identifying mutations in RAB3GAP1 in 41% of cases, mutations in RAB3GAP2 in 7% of cases, and mutations in RAB18 in 5% of cases PMID: 23420520
    13. This replication and meta-analysis study showed that genetic variation upstream of the RAB3GAP1 gene is highly likely to be a contributor to the genetic risk of keratoconus development. PMID: 23833071
    14. Micro syndrome has been associated with causative mutations in three disease genes: RAB3GAP1, RAB3GAP2 and RAB18. Martsolf syndrome has been associated with a mutation in RAB3GAP2.[Review] PMID: 23176487
    15. The RAB3GAP gene encodes a protein which is a key regulator of the Rab3 pathway implicated in exocytic release of ocular and neurodevleopmental trophic factors. PMID: 22876574
    16. Mutation in RAB3GAP1 is associated with warburg micro syndrome. PMID: 22768674
    17. study found five new mutations in the RAB3GAP1 gene in seven patients with suspected Micro Syndrome from families with Turkish, Palestinian, Danish, and Guatemalan backgrounds PMID: 20512159
    18. RAB3GAP1 has been shown to cause Micro syndrome. PMID: 18286824

    顯示更多

    收起更多

  • 相關疾病:
    Warburg micro syndrome 1 (WARBM1)
  • 亞細胞定位:
    Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction.
  • 蛋白家族:
    Rab3-GAP catalytic subunit family
  • 組織特異性:
    Ubiquitous.
  • 數據庫鏈接:

    HGNC: 17063

    OMIM: 600118

    KEGG: hsa:22930

    STRING: 9606.ENSP00000411418

    UniGene: Hs.306327



主站蜘蛛池模板: 最新在线精品国自产拍视频| 麻豆果冻国产剧情av在线播放| 奇米777四色在线精品| 亚洲国产成人在人网站天堂| 少妇性荡欲午夜性开放视频剧场| 2021无码最新国产在线观看| 在线观看黄a∨免费无毒网站 | 奇米777四色成人影视| 少妇一晚三次一区二区三区| 五月花成人网| 午夜私人成年影院| 18禁无遮挡羞羞污污污污网站| 成人毛片18女人毛片免费| 国产l精品国产亚洲区久久| 3344永久在线观看视频| 国产一卡2卡3卡4卡精品| 特级毛片在线大全免费播放| 黑人粗长大战亚洲女| 久久精品国产精油按摩| 天天天天躁天天爱天天碰| 国产精品毛片无遮挡高清| 亚洲国产午夜精品理论片| 亚洲欧美日韩中文二区| 纯爱无遮挡h肉动漫在线播放| 国产一区二区精品丝袜| 国产成人av免费网址| 国产真人作爱免费视频道歉| 人人妻人人玩人人澡人人爽| 综合图片亚洲综合网站| 又色又爽又黄的视频女女| 人人妻人人澡人人爽精品日本| 99久久久无码国产aaa精品| 秋霞电影网午夜鲁丝片无码| 中文无码av在线亚洲电影| 免费人成视频x8x8| 东北老头嫖妓猛对白精彩| 天天躁夜夜躁狠狠综合| 国产麻豆剧传媒精品国产av| 国产二级一片内射视频播放| 真实国产乱子伦在线视频| 国产真人性做爰久久网站|