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 Retinal guanylyl cyclase 1 (GUCY2D CORD6 GUC1A4 GUC2D RETGC RETGC1)

  • 中文名稱:
  • 貨號(hào):
    CSB-YP010054HU
  • 規(guī)格:
  • 來源:
    Yeast
  • 其他:
  • 中文名稱:
  • 貨號(hào):
    CSB-EP010054HU
  • 規(guī)格:
  • 來源:
    E.coli
  • 其他:
  • 中文名稱:
  • 貨號(hào):
    CSB-EP010054HU-B
  • 規(guī)格:
  • 來源:
    E.coli
  • 共軛:
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他:
  • 中文名稱:
  • 貨號(hào):
    CSB-BP010054HU
  • 規(guī)格:
  • 來源:
    Baculovirus
  • 其他:
  • 中文名稱:
  • 貨號(hào):
    CSB-MP010054HU
  • 規(guī)格:
  • 來源:
    Mammalian cell
  • 其他:

產(chǎn)品詳情

  • 純度:
    >85% (SDS-PAGE)
  • 基因名:
    GUC2D
  • Uniprot No.:
  • 別名:
    Retinal guanylyl cyclase 1; RETGC-1; EC 4.6.1.2; CG-E; Guanylate cyclase 2D, retinal; Rod outer segment membrane guanylate cyclase; ROS-GC; GUCY2D CORD6 GUC1A4 GUC2D RETGC RETGC1
  • 種屬:
    Homo sapiens (Human)
  • 蛋白標(biāo)簽:
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 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.
  • 復(fù)溶:
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲(chǔ)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:
    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 :
    Please contact us to get it.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能:
    Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment. May also participate in the trafficking of membrane-asociated proteins to the photoreceptor outer segment membrane.
  • 基因功能參考文獻(xiàn):
    1. As other genotypes were identified, there were attempts to divide the genotypes by phenotype: GUCY2D-LCA was considered a cone-rod dystrophy, whereas other genotypes were designated as rod-cone dystrophies PMID: 28212877
    2. Sequencing of GUCY2D identified a novel missense mutation (c.2129C:T; p.Ala710Val) resulting in substitution of alanine by valine at position 710 changes the conformation of the regulatory segment within the kinase styk-domain of GC1 and causes loss of its helical structure, likely inhibiting phosphorylation of threonine residue within this segment, which is needed to activate the catalytic domain of the protein. PMID: 27475985
    3. These results identify dissociable effects of blindness upon the visual pathway. Further, the relatively intact postgeniculate white matter pathway in GUCY2D-LCA is encouraging for the prospect of recovery of visual function with gene augmentation therapy. PMID: 28403437
    4. Two novel mutations causing phenotypic LCA and Alstrom syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies. PMID: 26957854
    5. Data suggest that GCAP1 (guanylate cyclase activator 1A; Mg2+ vs. Ca2+) exhibits conformational changes in Ca2+ switch helix that are important in activation of RetGC1; myristoylation of GCAP1 is important as well in attaining activator conformation. PMID: 26703466
    6. Gc1s/Gc1s phenotype variant of DBP and the unbound fraction of plasma RBP4 may be considered as factors related with the incidence, and possibly the risk, of IR in CHC patients. PMID: 26962819
    7. Guanylate cyclase signaling pathway is down regulated in the pathogenesis of inflammatory bowel diseases. PMID: 25979109
    8. Studies indicate that mutations in retinal guanylate cylase-1 (GUCY2D) are associated with a leading cause of recessive Leber congenital amaurosis (LCA1). PMID: 26427419
    9. The GUCY2D mutations were frequent in Chinese families with autosomal dominant cone or cone-rod dystrophies. All mutations were found in exon 13. PMID: 26298565
    10. Cardiac fibrosis and the endogenous natriuretic peptide system were evaluated in end-stage heart failure to assess the anti-fibrotic actions of the dual GC-A/-B activator. PMID: 25117468
    11. A deletion mutation in the GUCY2D gene is associated with Leber congenital amaurosis in a consanguineous Pakistani family. PMID: 25189253
    12. GUCY2D is a major cause of autosomal dominant cone and cone-rod dystrophies in Israel PMID: 25515582
    13. Neurodevelopmental delay is a potential feature of strictly defined LCA, documented in our series for some children with homozygous RPGRIP1 and GUCY2D mutations. PMID: 24997176
    14. Screening of the GUCY2D gene revealed the mutation p.R838H in all the affected individuals with autosomal dominant cone dystrophy and was absent in the asymptomatic patients. PMID: 24480840
    15. A missense mutation in the GUCY2D gene caused ADCRD in this family. Clinical follow-up of this family with a typical CRD phenotype revealed disease progression during the time period. PMID: 23686677
    16. Data suggest that dimerization domain of GUCY2D operates as a calcium-sensitive regulatory module; GUCY2D requires correct conformation of monomer-monomer interface for interaction with guanylate cyclase activating proteins (GCAP1; GCAP2). PMID: 23815670
    17. A novel missense mutation of the GUCY2D gene was identified in this study. PMID: 23734073
    18. postulate a relationship between the level of RetGC1 activity and the degree of cone vision abnormality, and argue for cone function being the efficacy outcome in clinical trials of gene augmentation therapy in LCA1 PMID: 23035049
    19. Expression of mutant human RETGC-1 leads to a retinal phenotype that includes aberrant photoreceptor morphology and a reduced number of photoreceptors. PMID: 23328348
    20. This is the first report of a GUCY2D mutation causing central areolar choroidal dystrophy and adds to our understanding of genotype-phenotype correlation in this heterogeneous group of choroidoretinal dystrophies. PMID: 22695961
    21. A recurrent heterozygous (p.Arg838His) mutation in GUCY2D is associated with autosomal dominant cone dystrophy in a Chinese family. PMID: 22194653
    22. Following subretinal delivery of a vector containing GUCY2D in Gucy2e(-/-) mice, GC1 protein was detected in the rod and cone outer segments, transducin was appropriately localized to cone outer segments, and an improvement in visual behavior. PMID: 21671801
    23. Two macular dystrophy-associated disease mutations at codon 838 of the GUCY2D gene were found among the 22 unrelated Spanish families, one of which had not been previously described (p.R838P). This novel mutation exhibited phenotypic variability. PMID: 21552474
    24. This study hence establishes GUCY2D, which is a common cause for both recessive Leber's congenital amaurosis and dominant cone-rod dystrophy, as a good candidate for autosomal recessive cone-rod dystrophy. PMID: 20517349
    25. Variations of macular microstructures were observed among LCA (Leber congenital amaurosis) patients with different genotypes. PMID: 19959640
    26. Studies show that a fold recognition based model of the catalytic domain of ROS-GC1 was built, and neurocalcin delta docking simulations were carried out to define the three-dimensional features of the interacting domains of the two molecules. PMID: 18500817
    27. The coexpression of ROS-GC1 and its activators in spermatozoa suggests that the Ca(2+)-modulated ROS-GC1 transduction system may be a part of the fertilization machinery PMID: 19111294
    28. clustering and frequency of mutations in patients with dominant cone-rod dystrophies PMID: 11565546
    29. Some carrier parents of patients with Leber congenital amaurosis and a GUCY2D mutation develop measurable cone and possibly rod abnormalities most consistent with a mild cone-rod dysfunction. PMID: 12365911
    30. Two amino acid substitution missense mutations at R838C and R838H have been identified as well as 11 new polymorphic markers. PMID: 12552567
    31. Leber congenital amaurosis (LCA) caused by mutant GUCY2D had only light perception but retained substantial numbers of cones and rods in the macula and far periphery. PMID: 12623820
    32. A heterozygous complex mutation of I915T and G917R in the GUCY2D gene caused autosomal dominant CORD (cone-rod dystrophy) PMID: 15111605
    33. LCA (leber congenital amaurosis) is caused by the modifying effect of a heterozygous GUCY2D mutation observed against the disease background of a homozygous RPE65 mutation. PMID: 15512997
    34. AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 mutations may have roles in juvenile retinitis pigmentosa PMID: 16272259
    35. Microarray-based mutation detection allowed the identification of 32% of LCA sequence variants and represents an efficient first-pass screening tool. Mutations in CRB1, and to a lesser extent, in GUCY2D, underlie most LCA cases in this cohort PMID: 16505055
    36. There is a phenotype-genotype correlation of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1 PMID: 17041576
    37. Testing confirms the diagnosis at the molecular level and allows for a more precise prognosis of the possible future clinical evolution PMID: 17651254
    38. illustrate the use of haplotype information about allele-sharing decay around a mutation as a genetic clock, using data for two GUCY2D mutations in Mediterranean populations PMID: 17684531
    39. RPE65 gene mutations represented a significant cause of LCA in the Italian population, whereas GUCY2D and CEP290 mutations had a lower frequency than that found in other reports. PMID: 17724218
    40. a novel mutation, P575L, was found in exon 8 of the GUCY2D gene in 12 members of a family with autosomal dominant progressive cone degeneration PMID: 18332321
    41. GUCY2D is a major gene responsible for progressive autosomal dominant cone degeneration. All identified mutations localize to codon 838. PMID: 18487367

    顯示更多

    收起更多

  • 相關(guān)疾病:
    Leber congenital amaurosis 1 (LCA1); Cone-rod dystrophy 6 (CORD6)
  • 亞細(xì)胞定位:
    Photoreceptor outer segment membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein.
  • 蛋白家族:
    Adenylyl cyclase class-4/guanylyl cyclase family
  • 組織特異性:
    Retina.
  • 數(shù)據(jù)庫(kù)鏈接:

    HGNC: 4689

    OMIM: 204000

    KEGG: hsa:3000

    STRING: 9606.ENSP00000254854

    UniGene: Hs.592109



主站蜘蛛池模板: 久久无码人妻精品一区二区三区 | 精品综合久久久久久888蜜芽| 国产精品vⅰdeoxxxx国产| 人人爽久久涩噜噜噜av| 四虎永久在线精品8848a| 97久久人人超碰超碰窝窝| 成品人视频ww入口| 亚洲国产精品不卡av在线| 体验区试看120秒啪啪免费| 无码播放一区二区三区| 国内精品久久久久久中文字幕| 国产色播av在线观看| 中文字幕乱码免费专区| 国产精品国产精品国产专区不卡| 亚洲a∨无码一区二区| 国模欢欢炮交啪啪150| 少妇特黄a一区二区三区| 久久综合久久综合九色| 国产精品日韩欧美一区二区三区| 日本内射精品一区二区视频| 无码精品久久久久久人妻中字| 久久热最新网站获取| 男女性高爱潮免费网站| 国产爆乳无码视频在线观看3 | 99久久亚洲综合精品成人| 亚洲熟妇丰满大屁股熟妇| 亚洲一区av在线观看| 久久中文字幕无码a片不卡古代| 国产成年无码久久久免费| 日本va欧美va欧美va精品| 亚洲三区在线观看内射后入| 天堂网www天堂资源网 | 人妻丰满熟妇av无码区免| 亚洲动漫精品无码av天堂| 无码日韩人妻av一区免费| 宅女午夜福利免费视频| 日本肉体xxxx裸体137大胆| 久久视频在线视频精品| 国产精品一区在线观看你懂的 | 伴郎粗大的内捧猛烈进出视频观看| 亚洲最大日夜无码中文字幕|