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  4. Recombinant Human X-linked retinitis pigmentosa GTPase regulator (RPGR), partial

Recombinant Human X-linked retinitis pigmentosa GTPase regulator (RPGR), partial

In Stock
  • 中文名稱：
    人RPGR重組蛋白
  • 貨號：
    CSB-MP838814HU
  • 規(guī)格：
    ￥3960
  • 圖片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

產(chǎn)品詳情

  • 純度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
  • Uniprot No.：
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    partial of Isoform 1
  • 來源：
    Mammalian cell
  • 分子量：
    62.8 kDa
  • 表達(dá)區(qū)域：
    54-367aa
  • 氨基酸序列
    NKLYMFGSNNWGQLGLGSKSAISKPTCVKALKPEKVKLAACGRNHTLVSTEGGNVYATGGNNEGQLGLGDTEERNTFHVISFFTSEHKIKQLSAGSNTSAALTEDGRLFMWGDNSEGQIGLKNVSNVCVPQQVTIGKPVSWISCGYYHSAFVTTDGELYVFGEPENGKLGLPNQLLGNHRTPQLVSEIPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGLGTFLFETSEPKVIENIRDQTISYISCGENHTALITDIGLMYTFGDGRHGKLGLGLENFTNHFIPTLCSNFLRFIVKLVACGGCHMVVFAAP
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白標(biāo)簽：
    C-terminal hFC-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：
    If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
  • 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°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 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：
    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(chǎn)品評價

靶點(diǎn)詳情

  • 功能：
    Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes. May be involved in microtubule organization and regulation of transport in primary cilia.
  • 基因功能參考文獻(xiàn)：
    1. A Chinese family with Retinitis pigmentosa, 5 males with night blindness and decreased vision, and 8 females with different severities of myopia. Targeted exome capture sequencing in 2 males revealed a novel variant in the RPGR gene. The mutation cosegregated with the disease phenotype in the family. PMID: 30313097
    2. this is the first report of a molecular genetic diagnosis of XLRP in a patient with Turner syndrome. The X-linked RP in this woman may not be related to Turner syndrome, but may be a manifestation of the lack of a normal paternal X chromosome with in tact but mutate d RPGR PMID: 29135076
    3. A novel frame-shift mutation in exon ORF15 of RPGR gene attributes of this heterozygosity suggest that gain-of-function mechanism could give rise to pathologic myopia via a degenerative cell-cell remodeling of the retinal structures. PMID: 27995965
    4. RPGR interacts with PDE6delta and INPP5E. PDE6delta binds selectively to the C-terminus of RPGR and that this interaction is critical for RPGR's localization to cilia. INPP5E associates with the N-terminus of RPGR and trafficking of INPP5E to cilia is dependent upon the ciliary localization of RPGR. PMID: 28172980
    5. In induced pluripotent stem cells and mouse knockouts that RPGR mediates actin dynamics in photoreceptors via the actin-severing protein, gelsolin. PMID: 28814713
    6. Together with a physical interaction between RPGR and the C-terminal domain of CEP290, our data suggest that RPGR and CEP290 genetically interact and highlight the involvement of hypomorphic alleles of genes as potential modifiers of heterogeneous retinal ciliopathies. PMID: 26936822
    7. We also correlated the features observed in patients with those of three Rpgr-mutant (Rpgr-ko, Rd9, and Rpgr-cko) mice. In patients, there was pronounced macular disease PMID: 27798110
    8. Profound visual loss occurred by the second decade of life with progression to near no light perception by age 60 in this kindred of X-linked RP associated with the RPGR genotype. PMID: 24555744
    9. Although carriers of XLRP are usually asymptomatic or have a mild disease of late onset, the proband presented here exhibited an early-onset, aggressive form of the disease. PMID: 24428633
    10. The regulator of chromosome condensation 1-like domain of RPGR was conserved in vertebrates and invertebrates, but RPGR(ORF15) was unique to vertebrates. PMID: 26431479
    11. Coverage-based analysis indicated that the RPGR open reading frame (ORF)15 was located in an uncovered or low-depth region. Through additional screening of ORF15, we identified pathogenic mutations in 14% (7/50) of patients. PMID: 25569437
    12. X-linked retinitis pigmentosa caused by mutations in the RPGR gene is a severe and early onset form of retinal degeneration. [review] PMID: 25301933
    13. Severe retinal degeneration is found in a Czech family women with a c.2543del mutation in ORF15 of the RPGR gene. PMID: 25352739
    14. The edge of the ellipsoid zone in each patient with X-linked retinitis pigmentosa indicates a transition zone between relatively healthy and relatively degenerate retina. PMID: 25556114
    15. RPGR mutations associated with X-linked retinitis pigmentosa. PMID: 24454928
    16. We will summarize the functional characterization of RPGR and highlight recent studies in animal models, which will not only shed light on the disease mechanisms in X linked retinitis pigmentosa but will also provide therapeutic strategies for treatment. PMID: 24664734
    17. A novel RPGR gene was found in a retinal dystrophy patient in a family with Stargardt disease. PMID: 24489377
    18. While visual acuity and electroretinography phenotypes are concordant in only some patients carrying identical mutations, assessment of phenotypes revealed stronger phenotypic conservation. PMID: 23681342
    19. RPGR is acting as a scaffold protein recruiting cargo-loaded PDE6D and Arl3 to release lipidated cargo into cilia. PMID: 23559067
    20. Mutations in RPGR were found in two patients and relatives with primary ciliary dyskinesia and retinitis pigmentosa. Reduced ciliary orientation and coordination of ciliary bundles suggest RPGR may play a role in respiratory cilia orientation. PMID: 22888088
    21. Mutations in RPGR are one of the most common causes of all forms of retinitis pigmentosa. PMID: 23372056
    22. the human RPGR proximal promoter region in which a 3-kb fragment contained sufficient regulatory elements to control RPGR expression in mouse retina and other tissues. PMID: 22577079
    23. Genetic variation of RPGRIP1L and IQCB1 may affect severity in RPGR mutation X-linked retinitis pigmentosa. PMID: 22183348
    24. This novel mutation in RPGR ORF15 causes serious retinitis pigmentosa phenotype in males and no RP phenotype in female carriers. PMID: 21914266
    25. The function of RPGR was analysed by RNA interference-mediated translational suppression. PMID: 21933838
    26. Data show that the minor allele (N) of I393N in IQCB1 and the common allele (R) of R744Q in RPGRIP1L were associated with severe disease in XlRP with RPGR mutations. PMID: 21857984
    27. Expression of RPGR mutations in this particular region appears to be relatively homogeneous and predisposed to cones. PMID: 21866333
    28. a micro-deletion through prenatal genetic diagnosis and another novel nonsense mutation in RPGR-ORF15. PMID: 21683121
    29. Recent advances on understanding the role of RPGR in photoreceptor protein trafficking, are summarized. PMID: 20238008
    30. a novel deletion mutation in the retinitis pigmentosa GTPase regulator gene, gORF15+556delA, in a Han Chinese family with retinitis pigmentosa PMID: 21227725
    31. Mutations in the RPGR gene lead to X-linked Retinitis pigmentosa (XLRP), one of the most severe and early onset forms of RP. Gene therapy is considered a potential therapeutic option and is currently under investigation. PMID: 21174525
    32. The pedigree we have investigated here represents the first Czech family with an identified molecular genetic cause of retinitis pigmentosa PMID: 20064120
    33. RPGR modulates intracellular localization and function of RAB8A. PMID: 20631154
    34. Differentially expressed genes were identified in mutant retinas. At 7 and 16 weeks, a combination of nonclassic anti- and proapoptosis genes and mitochondria-related genes appear to be involved in photoreceptor degeneration. PMID: 20574030
    35. The novel mutation in RPGR ORF15 causes a serious retinitis pigmentosa phenotype in males and noretinitis pigmentosa phenotype in female carriers. PMID: 20806050
    36. Studies highlight the recent developments in understanding the mechanism of cilia-dependent photoreceptor degeneration due to mutations in RPGR and PGR-interacting proteins in severe genetic diseases. PMID: 20090203
    37. These findings show that splicing of RPGR is precisely regulated in a tissue-dependent fashion and suggest that mutations in RPGR frequently interfere with the expression of alternative transcript isoforms. PMID: 19834030
    38. RPGR is involved in cilia-dependent cascades during development in zebrafish. PMID: 19815619
    39. This novel mutation in RPGRcauses X-Linked RP with complete penetrance in males and females and affected females are highly myopic but retain better visual function than affected males. PMID: 19218993
    40. Insertional/deletional mutations observed in the three families with X-linked retinitis pigmentosa are all different and new, and are predicted to lead to a frameshift, resulting in a truncated protein. PMID: 11754050
    41. X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15 PMID: 11857109
    42. A mutation in this gene causes X-linked cone dystrophy. This type of hereditary retinal degeneration is distinct from retinitis pigmentosa. PMID: 11875055
    43. RPGR and RPGRIP isoforms are distributed and co-localized at restricted foci throughout the outer segments of human and bovine, but not mice rod photoreceptors. PMID: 12140192
    44. Identification of an RPGR mutation in atrophic macular degeneration expands the phenotypic range from retinitis pigmentosa. PMID: 12160730
    45. RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. PMID: 12657579
    46. Different RPGR mutations lead to distinct RP (retinitis pigmentosa) phenotypes, with a highly variable inter- and intrafamilial phenotypic spectrum of disease PMID: 14516808
    47. Among patients with RPGR mutations, those with ORF15 mutations had, on average, a significantly larger visual field area and a borderline larger ERG amplitude than did patients with RPGR mutations in exons 1-14 PMID: 14564670
    48. Mutations in the RPGR gene is associated with X-linked retinitis pigmentosa PMID: 14566651
    49. Sequencing revealed skipping of exon 2 in the mutated transcript, leading to in-frame deletion of 42 amino acids affecting the critical RCC1-like domain. PMID: 15364249
    50. RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin. PMID: 15772089

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  • 相關(guān)疾?。?/div>
    Retinitis pigmentosa 3 (RP3); Retinitis pigmentosa and sinorespiratory infections with or without deafness (RPDSI); Cone-rod dystrophy, X-linked 1 (CORDX1); Macular degeneration, X-linked, atrophic (MDXLA)
  • 亞細(xì)胞定位：
    Cytoplasm, cytoskeleton, flagellum axoneme. Golgi apparatus. Cell projection, cilium.; [Isoform 6]: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme.
  • 組織特異性：
    Heart, brain, placenta, lung, liver, muscle, kidney, retina, pancreas and fetal retinal pigment epithelium. Isoform 3 is found only in the retina. Colocalizes with RPGRIP1 in the outer segment of rod photoreceptors and cone outer segments.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 10295

    OMIM: 300029

    KEGG: hsa:6103

    STRING: 9606.ENSP00000367766

    UniGene: Hs.61438