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

Recombinant Human Cytochrome P450 4V2 (CYP4V2)

  • 中文名稱:
    Recombinant Human Cytochrome P450 4V2(CYP4V2)
  • 貨號:
    CSB-CF765094HU
  • 規(guī)格:
  • 來源:
    in vitro E.coli expression system
  • 其他:

產(chǎn)品詳情

  • 基因名:
  • Uniprot No.:
  • 別名:
    CYP4V2; Cytochrome P450 4V2; Docosahexaenoic acid omega-hydroxylase CYP4V2; Long-chain fatty acid omega-monooxygenase
  • 種屬:
    Homo sapiens (Human)
  • 蛋白長度:
    full length protein
  • 表達(dá)區(qū)域:
    1-525
  • 氨基酸序列
    MAGLWLGLVWQKLLLWGAASALSLAGASLVLSLLQRVASYARKWQQMRPIPTVARAYPLV GHALLMKPDGREFFQQIIEYTEEYRHMPLLKLWVGPVPMVALYNAENVEVILTSSKQIDK SSMYKFLEPWLGLGLLTSTGNKWRSRRKMLTPTFHFTILEDFLDIMNEQANILVKKLEKH INQEAFNCFFYITLCALDIICETAMGKNIGAQSNDDSEYVRAVYRMSEMIFRRIKMPWLW LDLWYLMFKEGWEHKKSLQILHTFTNSVIAERANEMNANEDCRGDGRGSAPSKNKRRAFL DLLLSVTDDEGNRLSHEDIREEVDTFMFEGHDTTAAAINWSLYLLGSNPEVQKKVDHELD DVFGKSDRPATVEDLKKLRYLECVIKETLRLFPSVPLFARSVSEDCEVAGYRVLKGTEAV IIPYALHRDPRYFPNPEEFQPERFFPENAQGRHPYAYVPFSAGPRNCIGQKFAVMEEKTI LSCILRHFWIESNQKREELGLEGQLILRPSNGIWIKLKRRNADER
    Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
    If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
  • 蛋白標(biāo)簽:
    N-terminal 10xHis-tagged
  • 產(chǎn)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:
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 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(zhì)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:
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項(xiàng):
    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(chǎn)品評價(jià)

靶點(diǎn)詳情

  • 功能:
    A cytochrome P450 monooxygenase involved in fatty acid metabolism in the eye. Catalyzes the omega-hydroxylation of polyunsaturated fatty acids (PUFAs) docosahexaenoate (DHA) and its precursor eicosapentaenoate (EPA), and may contribute to the homeostasis of these retinal PUFAs. Omega hydroxylates saturated fatty acids such as laurate, myristate and palmitate, the catalytic efficiency decreasing in the following order: myristate > laurate > palmitate (C14>C12>C16). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase).
  • 基因功能參考文獻(xiàn):
    1. To the best of our knowledge, this study represents the largest effort to determine the genetic alterations underlying Bietti crystalline dystrophy (BCD) in Spain to date. Our results show that analysis of CYP4V2 variants is required for a reliable diagnosis of BCD. PMID: 29691984
    2. This is the first report of a homozygous R400C mutation in CYP4V2 with protein modelling showing high likelihood of enzyme dysfunction. The comprehensive long-term clinical follow-up provides insight into disease progression and highlights possible anti-inflammatory modulation of disease severity. PMID: 28698241
    3. Bietti crystalline dystrophy patients with CYP4V2 mutations showed more severe macular choroid atrophy as compared to EYS-related RP patients. These different damage patterns suggest differences in choroidal expression between CYP4V2 and EYS. PMID: 27658286
    4. In summary, we confirmed that the choroideremia-like fundus appearance of our patient was caused by the novel homozygous CYP4V2 variant. PMID: 27348340
    5. Photoreceptor outer segment and apical retinal pigment epithelium abnormalities underlie the relatively extensive retinal dysfunction observed in relatively early-stage Bietti crystalline dystrophy. Intravitreal Bevacizumab was effective in treating CNV in this setting. PMID: 27028354
    6. Expression levels of both CYP4V2 mRNA and protein were significantly reduced after treatment with peroxisome proliferator-activated receptor gamma (PPARgamma) antagonist GW9662 PMID: 28729181
    7. Nineteen missense, 4 nonsense, 2 deletion, 2 splice site, and 1 insertion-deletion mutations were identified in in patients with Bietti crystalline corneoretinal dystrophy. The age of the c.802-8_810del17insGC mutation was estimated to be 1040-8200 generations in the Chinese and 300-1100 generations in the Japanese populations. PMID: 28051075
    8. We found that the subfoveal choroidal thickness and the outer choroidal vascular area were smaller in Bietti Crystalline Dystrophy patients with CYP4V2 mutations than in age-, sex-, AL-, and logMAR VA-matched RP patients with EYS mutations or age-, sex-, and AL-matched healthy controls. PMID: 28763560
    9. Our findings broaden the spectrum of CYP4V2 mutations that cause BCD and the phenotypic spectrum of the disease in Chinese families. These results will be useful for the genetic diagnosis of BCD, genetic consultation, and gene therapy in the future. PMID: 26971461
    10. The results of this study demonstrate that causative variants identified in the CTNNA1 and CYP4V2 genes are also associated with Leber Congenital Amaurosis. PMID: 28453600
    11. Genetic analysis of the CYP4V2 gene revealed a c.802-8_810delinsGC homozygote mutation. PMID: 26865810
    12. In Bietti crystalline dystrophy patients with CYP4V2 mutations, cone density remained for visual dysfunction by evaluation using high-resolution AO-SLO. PMID: 26521715
    13. Four novel mutations were identified, contributing to the spectrum of CYP4V2 mutations associated with Bietti's crystalline dystrophy. PMID: 25593508
    14. cytochrome P450 family 4 subfamily V polypeptide 2 (CYP4V2) c.219T>A (p.F73L) mutation may be a recurrent mutation in Chinese patients with Bietti crystalline dystrophy (BCD). PMID: 24739949
    15. Likely disease-causing variants were identified in 34 chromosomes from 17 families. Seven were novel, including p.Met66Arg, found in all 11 patients from 8 families of South Asian descent. PMID: 24480711
    16. This finding suggests that the crystals in the lens of patients with Bietti crystalline corneoretinopathy may be produced in the same way as corneal or retinal crystalline deposits and therefore result from a systemic abnormality of lipid metabolism. PMID: 23793346
    17. The authors identified a case of Bietti crystalline dystrophy with central and paracentral keratopathy and the molecular analysis of the causative gene in a Spanish family. PMID: 23538635
    18. The entire coding region and adjacent intronic regions of the CYP4V2 gene were sequenced. Five mutations were identified in the 29-year-old male with Bietti's crystalline dystrophy. PMID: 23242590
    19. Sequencing of CYP4V2 revealed nine sequence variants in four unrelated families and six isolated individuals with BCD. PMID: 23221965
    20. Two mutations in CYP4V2 were found in three Lebanese families with Bietti crystalline dystrophy: p.I111T (c.332T>C) in exon 3 in two families and the novel p.V458M (c.1372G>A) mutation in exon 9 in one family. PMID: 22605929
    21. Compound heterozygous c.802-8_810del17insGC and c.1091-2A>G mutations of the CYP4V2 gene were identified as causative mutations for retinitis pigmentosa PMID: 22693542
    22. This study identified the most sensitive functional methods for assessing Bietti's crystalline dystrophy patients, and the significance of pupillary light reflex in the advanced stages. PMID: 21892605
    23. Four novel benign variations in the CYP4V2 gene (three in exons and one in an intron) were observed in the patient cohort with Bietti crystalline dystrophy associated with choroidal neovascularization. PMID: 21850171
    24. these results expand the mutation spectrum of CYP4V2 and demonstrate an overview of the CYP4V2 mutation spectrum and its frequency in families with Bietti crystalline corneoretinal dystrophy. PMID: 21565171
    25. REVIEW: genetic analyses have identified a wide spectrum of mutations in the CYP4V2gene from patients suffering from Bietti's crystalline corneoretinal dystrophy, and mutations in theCYP4F22 gene have been linked to lamellar ichthyosis PMID: 21540472
    26. We describe a patient with Bietti crystalline dystrophy with a CYP4V2 gene mutation and typical leukocyte inclusions who showed the classical retinal lesions but had a normal electroretinogram. PMID: 21385027
    27. crystal-like deposits may appear on the lens capsule of patients with Bietti crystalline corneoretinal dystrophy(BCD) associated with a mutation in the CYP4V2 gene. PMID: 19508456
    28. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
    29. Defective omega-oxidation of ocular fatty acids/lipids secondary to mutations in the CYP4V2 gene appears to be a plausible mechanism underlying the abnormal lipid metabolism of Bietti's crystalline dystrophy. PMID: 19661213
    30. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 20205591
    31. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2 PMID: 15042513
    32. Our findings suggest that the IVS6 to 8delTCATACAGGTCATCGCG/insGC mutation is a common mutation in Japanese patients with BCD (Bietti's crystalline corneoretinal dystrophy) PMID: 15860296
    33. In two patients, a homozygous and compound heterozygote, deletion/insertion mutations and novel nonsense (p.W340X) mutations were identified. PMID: 16088246
    34. Our finding expands the spectrum of CYP4V2 mutations causing BCD, and further confirms the role of CYP4V2 in the pathogenesis of BCD (Bietti crystalline corneoretinal dystrophy). PMID: 16179904
    35. This study identified novel mutations in the CYP4V2 gene as a cause of BCD. A high carrier frequency for the 15-bp deletion in exon 7 may exist in the Singapore population. PMID: 16186368
    36. A homozygous mutation was identified in two of the unrelated patients, and only a heterozygous change was detected in the third. These data indicate that c.802-8del17bp/insGC may be a frequent mutation in CYP4V2 gene PMID: 17013694
    37. CYP4V2 gene mutations may have a role in Bietti crystalline corneoretinal dystrophy PMID: 17249554
    38. BCD (Bietti's crystalline dystrophy) patients with homozygous IVS6-8del17bp/insGC or compound heterozygous IVS6-8del17bp/insGC and IVS8-2A>G mutations appeared to have more severe disease phenotype based on electrophysiological testing. PMID: 17962476
    39. SNPs in the region around the SNP in CYP4V2 (rs13146272) were associated with both deep vein thrombosis and factor XI levels. PMID: 18349091
    40. Observational study of gene-disease association. (HuGE Navigator) PMID: 19583818
    41. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 19278955
    42. Observational study of gene-disease association. (HuGE Navigator) PMID: 18349091

    顯示更多

    收起更多

  • 相關(guān)疾病:
    Bietti crystalline corneoretinal dystrophy (BCD)
  • 亞細(xì)胞定位:
    Endoplasmic reticulum membrane; Single-pass membrane protein.
  • 蛋白家族:
    Cytochrome P450 family
  • 組織特異性:
    Broadly expressed. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, retina, retinal pigment epithelium (RPE) and lymphocytes.
  • 數(shù)據(jù)庫鏈接:

    HGNC: 23198

    OMIM: 210370

    KEGG: hsa:285440

    STRING: 9606.ENSP00000368079

    UniGene: Hs.587231



主站蜘蛛池模板: 精品国产乱码久久久久久郑州公司 | 国产乱子伦视频一区二区三区 | 久久综合给合综合久久| 99蜜桃臀久久久欧美精品网站| 日本熟妇色高清免费视频| 亚洲色欲色欲www成人网| 撕开奶罩揉吮奶头视频| 女人裸体做爰免费视频| 人妻无码一区二区三区tv| 四虎国产精品永久地址49| 97高清国语自产拍| 无码一区二区三区| 99久久国产成人免费网站| 新版天堂资源中文www连接| 97热久久免费频精品99| 亚洲日本在线电影| 国产舌乚八伦偷品w中| 蜜臀av综合网| 久久996re热这里有精品| 人妻无码一区二区三区| 男人撕开奶罩揉吮奶头视频| 动漫av纯肉无码av电影网| 成人免费无码大片a毛片小说 | 永久黄网站免费视频性色| 中国丰满熟妇av| 久久久亚洲一区二区三区| 精品国产精品久久一区免费式| 亚洲成av人在线观看天堂无码| 18禁超污无遮挡无码免费动态图| 搡老岳熟女国产熟妇| 午夜福利体验免费体验区| av无码人妻中文字幕| 国产三级在线观看完整版| 国产在线拍偷自揄拍无码 | 国产激情з∠视频一区二区| 三级在线看中文字幕完整版| 少妇被粗大的猛进出69影院| 丰满熟妇乱子伦| 欧美性xxxx狂欢老少配| 美女扒开奶罩露出奶头视频网站| 精品久久久久久中文字幕202 |