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  4. RAB39B Antibody

RAB39B Antibody

  • 中文名稱：
    RAB39B兔多克隆抗體
  • 貨號(hào)：
    CSB-PA019193GA01HU
  • 規(guī)格：
    ￥3,900
  • 其他：

產(chǎn)品詳情

  • Uniprot No.：
  • 基因名：
    RAB39B
  • 別名：
    RAB39B antibody; Ras-related protein Rab-39B antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human,Mouse,Rat
  • 免疫原：
    Human RAB39B
  • 免疫原種屬：
    Homo sapiens (Human)
  • 抗體亞型：
    IgG
  • 純化方式：
    Antigen Affinity Purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產(chǎn)品提供形式：
    Liquid
  • 應(yīng)用范圍：
    ELISA,WB,IHC
  • Protocols：
  • 儲(chǔ)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(jià)

靶點(diǎn)詳情

  • 功能：
    Small GTPases Rab involved in autophagy. The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. May regulate the homeostasis of SNCA/alpha-synuclein. Together with PICK1 proposed to ensure selectively GRIA2 exit from the endoplasmic reticulum to the Golgi and to regulate AMPAR compostion at the post-synapses and thus synaptic transmission.
  • 基因功能參考文獻(xiàn)：
    1. we report on two novel RAB39B frameshift variants associated with X-linked Parkinsonism associated with Intellectual Disability and we also describe, for the first time, a somatic mosaicism in a patient carrying RAB39B mutation PMID: 28851564
    2. results suggest that RAB39B mutation is very rare in familial PD and may not be a major cause of familial PD in the Chinese Han Population PMID: 27694831
    3. This study identified two patients carrying a variant in RAB39B out of 344 male patients with Parkinsonsim. PMID: 27448726
    4. Direct sequencing analysis of all coding exons and exon-intron boundaries was performed to detect small sequence alterations in RAB39B gene PMID: 27036214
    5. penetrance for autism spectrum disorder is high among males but more variable among females with RAB39B mutations; a critical role for this gene in brain development and function is demonstrated PMID: 29152164
    6. X-linked juvenile parkinsonism could be caused by a RAB39B mutation, and basal ganglia calcification may be a novel clinical feature of RAB39B-related parkinsonism. PMID: 27943471
    7. RAB39B mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies in Caucasian population PMID: 27459931
    8. RAB39B mutations are not a common cause of early-onset or familial PD in our Taiwanese population. PMID: 27838047
    9. RAB39B mutations are a rare finding in Parkinson disease patients PMID: 26739247
    10. RAB39B is an essential regulator of vesicular-trafficking in clinically typical Parkinson's disease PMID: 26399558
    11. It plays little or no role in the development of PD in Chinese population. PMID: 26163985
    12. RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition PMID: 25784538
    13. The loss of RAB39B results in dysregulation of alpha-synuclein homeostasis and a spectrum of neuropathological features that implicate RAB39B in the pathogenesis of Parkinson disease and potentially other neurodegenerative disorders. PMID: 25434005
    14. increased dosage of RAB39B causes a disturbed neuronal development leading to cognitive impairment PMID: 24357492
    15. Data indicate that myosin Va interacted with multiple new Rab subfamilies including Rab6, Rab14 and Rab39B. PMID: 24006491
    16. These results demonstrate developmental and functional neuronal alteration as a consequence of downregulation of RAB39B and emphasize the critical role of vesicular trafficking in the development of neurons and human intellectual abilities. PMID: 20159109
    17. RAB39B was expressed in a variety of human tissues and located in human chromosome Xq28. PMID: 12438742

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  • 相關(guān)疾病：
    Mental retardation, X-linked 72 (MRX72); Waisman syndrome (WSMN)
  • 亞細(xì)胞定位：
    Cell membrane; Lipid-anchor; Cytoplasmic side. Cytoplasmic vesicle membrane; Lipid-anchor; Cytoplasmic side. Golgi apparatus.
  • 蛋白家族：
    Small GTPase superfamily, Rab family
  • 組織特異性：
    Highly expressed in the brain.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 16499

    OMIM: 300271

    KEGG: hsa:116442

    STRING: 9606.ENSP00000358466

    UniGene: Hs.632832



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