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

OTC Antibody, FITC conjugated

  • 中文名稱:
    OTC兔多克隆抗體, FITC偶聯
  • 貨號:
    CSB-PA017270LC01HU
  • 規格:
    ¥880
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) OTC Polyclonal antibody
  • Uniprot No.:
  • 基因名:
  • 別名:
    EC 2.1.3.3 antibody; MGC129967 antibody; MGC129968 antibody; MGC138856 antibody; OCTD antibody; Ornithine Carbamoyltransferase antibody; Ornithine carbamoyltransferase mitochondrial antibody; Ornithine carbamoyltransferase, mitochondrial antibody; Ornithine transcarbamylase antibody; Otc antibody; OTC_HUMAN antibody; OTCase antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Recombinant Human Ornithine carbamoyltransferase, mitochondrial protein (33-354AA)
  • 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:
    Catalyzes the second step of the urea cycle, the condensation of carbamoyl phosphate with L-ornithine to form L-citrulline. The urea cycle ensures the detoxification of ammonia by converting it to urea for excretion.
  • 基因功能參考文獻:
    1. Whole exome sequencing successfully identified disease-causing mutations including two novel ones: the c.209_210delAA (p.Lys70Argfs*17) and the c.850T>A (p.Tyr284Asn). PMID: 30223008
    2. indicate that the proportion of about 20-30% of hepatocytes expressing the functional OTC protein is not sufficient to maintain metabolic stability. X-inactivation ratios assessed in liver biopsies taken from heterozygous females with X-linked disorders should not be considered representative of the whole liver PMID: 29623395
    3. The measurement of serum ornithine carbamoyltransferase concentration may provide a useful marker of disease severity, and thus could be a useful marker for a high risk of hepatocellular carcinoma occurrence. PMID: 28824294
    4. Low expression of OTC is associated with glioblastoma. PMID: 27431689
    5. In Korean patients with OTC deficiency, mutations in OTC are genetically heterogeneous. PMID: 25994866
    6. Sanger sequencing of the ornithine transcarbamylase (OTC) gene revealed a novel hemizygous deletion at the fourth nucleotide of intron 4 (c.386+4delT) in a child with hyperammonemia and his asymptomatic mother. PMID: 26446336
    7. Ornithine transcarbamylase deficiency was genetically heterogeneous in seven Korean patients with confirmed ornithine transcarbamylase deficiency diagnosis by biochemical findings and/or genetic analysis, together with two novel mutations in the OTC gene PMID: 25011434
    8. The corresponding OTC tissue enzyme activities were between 3-6% of normal control in mouse and human liver. The use of the cryptic splice sites was reproduced in minigenes carrying murine or human mutant sequences PMID: 25853564
    9. OTC mutation and phenotype in ornithine transcarbamylase deficiency PMID: 26059767
    10. aim of this study was to provide clues for recognition of OTCD in adults and analyze the environmental factors that, interacting with OTC gene mutations, might have triggered acute clinical manifestations PMID: 25026867
    11. HNF-4alpha most likely plays an essential role in the initiation of OTC transcription in human. PMID: 25056436
    12. Data indicate that all of the three patients have carried ornithine transcarbamylase gene mutations, patients 1 and 2 were both hemizygous for mutation c.586G> A(p.D196N). PMID: 25297582
    13. V339G and W332S mutations of OTC have been discovered for the first time PMID: 24711021
    14. carriers of the ornithine transcarbamylase (OTC) mutation are at risk for developing hyperammonemia coma during the postpartum period and at times of metabolic stress. PMID: 21956151
    15. In patients with a clinical and biochemical presentation of OTCD and negative OTC sequencing, whole genome or targeted chromosomal microarray analysis (CMA) with coverage of the OTC and neighboring genes should be performed as a reflex test. PMID: 20817516
    16. Mutations in the regulatory regions of OTC can lead to ornithine carbamoyltransferase deficiency and should be included in genetic testing. PMID: 20127982
    17. These results indicate that mutant alleles with late-onset OCT deficiency syndrome have recurrently arisen, have been retained in some populations, and some appear to hvae a common ancestor. PMID: 19893582
    18. deficiency in ornithine carbamoyltransferase enzymatic function conferred by the R40H mutation is likely caused by enhanced degradation of the preprotein in the cytosol. PMID: 11768581
    19. ornithine transcarbamylase (OTC) deficiency: review of mutations and polymorphisms in the human ornithine transcarbamylase gene PMID: 11793468
    20. seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency PMID: 11793483
    21. novel mutations in the ornithine transcarbamylase gene PMID: 12083811
    22. Haplotype analysis and phylogeny of polymorphisms of this protein were studied in two male populations. PMID: 12516615
    23. Using 2 (CA)n flanking markers of the OTC gene (DXS997 & DXS1068), the haplotypic background of 37 different mutational events was defined & compared with random control chromosomes. 1 particular haplotype is a risk factor for carrying OTC mutations. PMID: 15300856
    24. Mutations in the human ornithine transcarbamylase (OTC) gene is detected in patients with Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency. PMID: 15692798
    25. Novel mutations within the OTC gene are associated with Ornithine transcarbamylase (OTC) deficiency disorder. PMID: 16786505
    26. Novel mutations p.Leu9X, p.Arg26Pro, p.Gly100Arg, p.Met205Thr, p.Lys221Asn, p.Asp249Gly, p.Phe281Ser, p.Val323Met, c.571delC, c.853delC, and c.796-805del are associated with OTC deficiency. PMID: 17041896
    27. Describe a contiguous gene syndrome involving the RPGR, OTC and TM4SF2 genes in a male patient with severe neonatal ornithine transcarbamylase deficiency. PMID: 17570074
    28. Data show that OCT/ALT is a potent indicator for the diagnosis and the prognosis of hepatocellular carcinoma. PMID: 17570354
    29. our results suggest the involvement of a new pathway in AD brains involving the urea cycle. PMID: 17893704
    30. In ten families with late-onset ornithine transcarbamylase (OTC) deficiency in male patients, three mutant alleles-R40H, R277W, and Y55D-were identified. PMID: 18030415
    31. Two known and three novel mutations of the ornithine transcarbamylase (OTC) gene are reported in five Japanese patients with OTC deficieny including two neonatal-onset, one late-onset, and two symptomatic female patients. PMID: 18204299
    32. The rs5963409 minor allele was weakly but significantly associated with an increased risk of developing AD. PMID: 18983895
    33. Deletions and gene rearrangements of OTC gene are associated with Ornithine Carbamoyltransferase Deficiency Disease. PMID: 19138872
    34. Hypocitrullinemia in expanded newborn screening is not a reliable marker for OTCD. PMID: 19359120
    35. the identification of novel disease-causing mutations in Ornithine transcarbamylase deficiency and increases the knowledge on possible mutational mechanisms generating deletions in ornithine transcaramylase. PMID: 19475717
    36. OTC rs5963409 polymorphism may be associated with hypertension and coronary vasomotion in males PMID: 19574962

    顯示更多

    收起更多

  • 相關疾?。?/div>
    Ornithine carbamoyltransferase deficiency (OTCD)
  • 亞細胞定位:
    Mitochondrion matrix.
  • 蛋白家族:
    ATCase/OTCase family
  • 組織特異性:
    Mainly expressed in liver and intestinal mucosa.
  • 數據庫鏈接:

    HGNC: 8512

    OMIM: 300461

    KEGG: hsa:5009

    STRING: 9606.ENSP00000039007

    UniGene: Hs.117050



主站蜘蛛池模板: 熟女俱乐部五十路六十路| 亚洲成色www久久网站| 亚洲乱码精品久久久久..| 国产精品人成视频国模| 少妇人妻挤奶水中文视频毛片| 国产区精品福利在线社区| 久久久99精品免费观看| 国产精成人品| 日韩高清在线亚洲专区小说| 国产亚洲综合欧美一区二区| 亚洲精品国产一区二区精华液| 国产精品制服| 97色伦97色伦国产欧美| 国产亚洲精品久久久久丝瓜 | 免费观看羞羞视频网站| 国产乱码免费卡1卡二卡3| 国产福利自产拍| 农村老熟妇乱子伦视频| 色国产精品一区在线观看| 真人性生交免费视频| 色偷偷人人澡久久超碰97| 亚洲肥老太bbw中国熟女| 亚洲一区二区三区写真| 女人被狂爆到高潮免费视频 | 欧洲精品成人免费视频在线观看| 鲁丝一区二区三区免费| 亚洲熟妇无码av另类vr影视| 97色伦午夜国产亚洲精品| 亚洲国产精品一区二区美利坚| 色欲一区二区三区精品a片| 综合自拍亚洲综合图区欧美| 欧洲美女黑人粗性暴交| 国产午夜精品一区二区| 日韩 国产 变态另类 欧美| 天堂√在线中文最新版| 男人和女人在床的app| 国产猛男猛女超爽免费视频 | 成在线人免费视频播放| 又色又爽又黄18禁美女裸身无遮挡 | 国精品人妻无码一区免费视频电影 | 国产农村熟妇videos|