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

PNPLA6 Antibody

  • 中文名稱:
    PNPLA6兔多克隆抗體
  • 貨號:
    CSB-PA005585
  • 規格:
    ¥1090
  • 圖片:
    • Western Blot analysis of AD293 cells using NTE Polyclonal Antibody.
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
    PNPLA6
  • 別名:
    EC 3.1.1.5 antibody; Neuropathy target esterase antibody; NTEMND antibody; Patatin like phospholipase domain containing 6 antibody; Patatin like phospholipase domain containing protein 6 antibody; Patatin-like phospholipase domain-containing protein 6 antibody; PLPL6_HUMAN antibody; Pnpla6 antibody; SPG39 antibody; sws antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human,Mouse,Rat
  • 免疫原:
    Synthesized peptide derived from the Internal region of Human NTE.
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Non-conjugated
  • 抗體亞型:
    IgG
  • 純化方式:
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    WB, ELISA
  • 推薦稀釋比:
    Application Recommended Dilution
    WB 1:500-1:2000
    ELISA 1:20000
  • 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:
    Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Catalyzes the hydrolysis of several naturally occurring membrane-associated lipids. Hydrolyzes lysophospholipids and monoacylglycerols, preferring the 1-acyl to the 2-acyl isomer. Does not catalyze hydrolysis of di- or triacylglycerols or fatty acid amides.
  • 基因功能參考文獻:
    1. This result further confirmed the role of PNPLA6 in BoucherNeuhauser syndrome (BNS) and suggested that whole exome sequencing may be applied for the diagnosis of complex syndromes, including BNS, prior to the observation of obvious symptoms. PMID: 29749493
    2. Silencing of PNPLA6, the neuropathy target esterase (NTE) codifying gene, alters early neurodevelopment. PMID: 25255935
    3. These results strongly suggest that PNPLA9, -6 and -4 play a key role in GPL turnover and homeostasis in human cells. A hypothetical model suggesting how these enzymes could recognize the relative concentration of the different GPLs is proposed PMID: 27317427
    4. The unusual medical history with childhood ataxia and hypogonadotropic hypogonadism lead to further examinations and eventually the diagnosis of BNS. The older sister of the proband also displayed the triad of ataxia, HH and chorioretinal dystrophy accompanied by cerebellar atrophy and in 2014, we found the mutations in PNPLA6. PMID: 27866050
    5. Data indicate two novel homozygous mutations (one frameshift and one missense mutation) detected in CYP7B1 (SPG5A), while no disease-causing mutation was identified for PNPLA6 (SPG39) and C19orf12 (SPG43). PMID: 26714052
    6. inducible, neuron-specific expression of full-length human wildtype NTE reduces vacuole formation and substantially rescues mobility. PMID: 26671664
    7. Eight mutations in six families with Oliver-McFarlane or Laurence-Moon syndrome were identified in the PNPLA6 gene, which encodes neuropathy target esterase. PMID: 25480986
    8. PNPLA6 has a role in photoreceptor survival; its mutations are linked to photoreceptor degeneration and various forms of childhood blindness PMID: 25574898
    9. we found a novel compound heterozygous mutation and a novel homozygous one in the PNPLA6 gene in two Japanese patients with BNS. PMID: 25631098
    10. Data confirm PNPLA6 mutations as the leading cause of Boucher-Neuhauser syndrome and suggest inquiring about a history of hypogonadism or visual changes in patients presenting with late-onset gait ataxia. PMID: 25267340
    11. These results suggest that hypogonadism-dependent alteration of phospholipid homeostasis in Gordon Holmes syndrome causes both neurodegeneration and impaired LH release from pituitary gonadotropes, leading to the disease. PMID: 25033069
    12. The activity of NTE was higher in Sick building syndrome patients compared with controls. Population with an AA genotype of a single nucleotide polymorphism, rs480208, in intron 21 of the PNPLA6 gene strongly reduced the activity of NTE. PMID: 23418070
    13. PNPLA6 influences a manifold of neuronal systems, from the retina to the cerebellum, upper and lower motor neurons and the neuroendocrine system PMID: 24355708
    14. Neuronal phospholipid deacylation is essential for axonal and synaptic integrity through the action of iPLA2 and NTE. PMID: 22903185
    15. These results suggested for the first time that NTE is a cell cycle-dependent protein. PMID: 20306302
    16. Mutations in the neuropathy target esterase (NTE) gene cause autosomal recessive motor neuron disease. The features of affected subjects in the index families are described. PMID: 21171093
    17. Endogenous NTE activity was increased by cAMP-elevating chemicals, but decreased by the adenyl cyclase inhibitor SQ22536 which can reduce intracellular cAMP levels. PMID: 20380879
    18. Lack of correlation between reduced fibroblast NTE SA and the occurrence of NTE-MND in NTE insertion mutation heterozygotes indicates that reduction of NTE SA alone is insufficient to cause notor neuron disease. PMID: 20603202
    19. used the NTE catalytic domain (NEST) to hydrolyze palmitoyl-2-hydroxy-sn-glycero-3-phosphocholine (p-lysoPC) to palmitic acid in bilayer membranes comprising DOPC and NBD-PC PMID: 20346913
    20. The mutations found in association with NTE-related motor neuron disease have functional correlates in altered enzymological properties of NTE. PMID: 20382209
    21. catalyzes hydrolysis of membrane lipids PMID: 11927584
    22. Neuropathy target esterase and its homologues play a central role in membrane lipid homeostasis PMID: 15044461
    23. All-trans retinoic acid -induced differentiation of the neuroblastoma cells with lowered NTE activity revealed that inhibition of NTE expression does not affect neural differentiation. PMID: 16010971
    24. Results suggest that reduction of neuropathy target esterase does not affect process outgrowth or differentiation of neuroblastoma cells. PMID: 16122834
    25. results suggest that the role of NTE over-expression in cell proliferation is associated with different mechanisms in different cells PMID: 16987144
    26. These findings suggest that stimulation with phorbol 12-myristate 13-acetate reduces the expression of NTE mRNA levels but does not affect the exogenous promoter-driven NTE expression in mammalian cells. PMID: 17385009
    27. NTE mutations in unrelated motor neuron disease patients indicate NTE's importance in maintaining axonal integrity. PMID: 18313024
    28. the macroautophagy/lysosome pathway plays a role in controlling NTE quantity, providing a further understanding of the function of NTE. PMID: 19059269

    顯示更多

    收起更多

  • 相關疾病:
    Spastic paraplegia 39, autosomal recessive (SPG39); Boucher-Neuhauser syndrome (BNHS); Laurence-Moon syndrome (LNMS); Oliver-McFarlane syndrome (OMCS)
  • 亞細胞定位:
    Endoplasmic reticulum membrane; Single-pass type III membrane protein.
  • 蛋白家族:
    NTE family
  • 組織特異性:
    Expressed in brain, placenta, kidney, neuron and skeletal muscle. Expressed in the developing eye, pituitary and brain.
  • 數據庫鏈接:

    HGNC: 16268

    OMIM: 215470

    KEGG: hsa:10908

    STRING: 9606.ENSP00000407509

    UniGene: Hs.631863



主站蜘蛛池模板: 国内精品久久久久精免费| 精品少妇人妻av一区二区三区| 精品人妻无码一区二区三区抖音 | 国产亚洲产品影市在线产品| 最新亚洲春色av无码专区| 国产香蕉尹人在线观看视频| 久久久www成人免费无遮挡大片| 国产免费无码一区二区| 影音先锋人妻每日资源站| 无码丰满熟妇bbbbxxx| 精品午夜福利无人区乱码一区| 麻批好紧日起要舒服死了| 国产视频亚洲精品视频| 国产成人综合久久免费| 国产黑色丝袜在线视频| 色翁荡息又大又硬又粗又爽| 亚拍精品一区二区三区探花| 一区二区三区在线 | 日| 啦啦啦www在线观看免费视频| 久久久老熟女一区二区三区| 久久精品国产欧美日韩99热| 国产精品玩偶在线观看| 成人免费国产精品视频| 中国国产野外1级毛片视频| 国产区精品一区二区不卡中文| 好吊妞人成视频在线观看27du| а天堂8中文最新版在线官网| 国产成人精品午夜福利在线播放| 日本三级欧美三级人妇视频| 天堂在线www资源| 无套中出丰满人妻无码| 亚洲欧美中文字幕5发布 | 国产精品久久久久不卡绿巨人| 人妻系列无码专区喂奶| 久久人人97超碰国产公开| 日韩av影院在线观看| 99在线精品一区二区三区| 国产肉丝袜在线观看| 毛片无码国产| 成人亚洲a片v一区二区三区日本 | 久久免费午夜福利院|