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

CYP4V2 Antibody

  • 中文名稱:
    CYP4V2兔多克隆抗體
  • 貨號:
    CSB-PA008929
  • 規格:
    ¥1090
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
  • 別名:
    CYP4V2; Cytochrome P450 4V2; Docosahexaenoic acid omega-hydroxylase CYP4V2; Long-chain fatty acid omega-monooxygenase
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Synthesized peptide derived from the Internal region of Human CYP4V2.
  • 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, IHC, ELISA
  • 推薦稀釋比:
    Application Recommended Dilution
    WB 1:500-1:2000
    IHC 1:100-1:300
    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:
    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:
    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

  • 相關疾病:
    Bietti crystalline corneoretinal dystrophy (BCD)
  • 亞細胞定位:
    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.
  • 數據庫鏈接:

    HGNC: 23198

    OMIM: 210370

    KEGG: hsa:285440

    STRING: 9606.ENSP00000368079

    UniGene: Hs.587231



主站蜘蛛池模板: 欧美成人一区二区三区片免费| 久久理论片午夜琪琪电影网 | 亚洲国产欧美在线成人| 国产99青草视频在线播放视| 亚洲色精品88色婷婷七月丁香| 窝窝午夜色视频国产精品破| 日本少妇被黑人xxxxx| 色婷婷我要去我去也| 国产亚洲日韩av在线播放不卡| 日韩a∨精品日韩在线观看| 欧美性受xxxx黑人xyx性爽| 又粗又猛又黄又爽无遮挡| 宅男色影视亚洲人在线 | 欧美人与动性xxxxx杂| 国产毛片精品av一区二区| 宅宅午夜无码一区二区三区| 精品国偷自产在线视频| 国产在线观看码高清视频| 色综合天天无码网站| 成人免费午夜无码视频| 精品久久香蕉国产线看观看亚洲| 无套内射视频囯产| 精品成人a区在线观看| av无码免费岛国动作片不卡| 欧美黑人疯狂性受xxxxx喷水| 自偷自拍亚洲综合精品| 亚洲日本va在线视频观看| 国产精品久久久久久久久久红粉| 免费视频欧美无人区码| 久久本色成人综合网| 久久精品娱乐亚洲领先| 欧美乱大交xxxxx潮喷l头像| 狼色精品人妻在线视频免费| 97久久超碰成人精品网站| 国产啪精品视频网站| 欧美gv在线观看| 亚洲人成人一区二区三区| 亚洲精品一区久久久久久| 大香伊蕉在人线国产免费| 青草av久久一区二区三区| 露脸内射熟女--69xx|