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  4. Recombinant Human Ornithine transcarbamylase, mitochondrial (OTC)

Recombinant Human Ornithine transcarbamylase, mitochondrial (OTC)

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  • 中文名稱：
    人OTC重組蛋白
  • 貨號：
    CSB-EP017270HU
  • 規(guī)格：
    ￥1344
  • 圖片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

產品詳情

  • 純度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
  • Uniprot No.：
  • 別名：
    EC 2.1.3.3; MGC129967; MGC129968; MGC138856; OCTD; Ornithine Carbamoyltransferase; Ornithine carbamoyltransferase mitochondrial; Ornithine carbamoyltransferase, mitochondrial; Ornithine transcarbamylase; Otc; OTC_HUMAN; OTCase
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Full Length of Mature Protein
  • 來源：
    E.coli
  • 分子量：
    52.1kDa
  • 表達區(qū)域：
    33-354aa
  • 氨基酸序列
    NKVQLKGRDLLTLKNFTGEEIKYMLWLSADLKFRIKQKGEYLPLLQGKSLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPIINGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKENGTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPRSLVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白標簽：
    N-terminal 6xHis-SUMO-tagged
  • 產品提供形式：
    Liquid or Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 緩沖液：
    If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
    Note: If you have any special requirement for the glycerol content, please remark when you place the order.
    If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期：
    3-7 business days
  • 注意事項：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

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

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  • 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