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  4. Recombinant Human Visual system homeobox 1 (VSX1)

Recombinant Human Visual system homeobox 1 (VSX1)

  • 货号：
    CSB-YP025938HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP025938HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP025938HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    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：
  • 货号：
    CSB-BP025938HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP025938HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    VSX1
  • Uniprot No.：
  • 别名：
    VSX1; RINX; Visual system homeobox 1; Homeodomain protein RINX; Retinal inner nuclear layer homeobox protein; Transcription factor VSX1
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-365
  • 氨基酸序列
    MTGRDSLSDG RTSSRALVPG GSPRGSRPRG FAITDLLGLE AELPAPAGPG QGSGCEGPAV APCPGPGLDG SSLARGALPL GLGLLCGFGT QPPAAARAPC LLLADVPFLP PRGPEPAAPL APSRPPPALG RQKRSDSVST SDEDSQSEDR NDLKASPTLG KRKKRRHRTV FTAHQLEELE KAFSEAHYPD VYAREMLAVK TELPEDRIQV WFQNRRAKWR KREKRWGGSS VMAEYGLYGA MVRHCIPLPD SVLNSAEGGL LGSCAPWLLG MHKKSMGMIR KPGSEDKLAG LWGSDHFKEG SSQSESGSQR GSDKVSPENG LEDVAIDLSS SARQETKKVH PGAGAQGGSN STALEGPQPG KVGAT
  • 蛋白标签：
    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.
  • 产品提供形式：
    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.
  • 复溶：
    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.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    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.
  • 注意事项：
    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.

产品评价

靶点详情

  • 功能：
    Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster. May regulate the activity of the LCR and the cone opsin genes at earlier stages of development. Dispensable in early retinal development.
  • 基因功能参考文献：
    1. In this study, we added one novel missense sequence variation (p.Arg131Pro) in the coding region of the VSX1 gene to the range of VSX1 coding region variations observed in patients with sporadic keratoconus from China. PMID: 28950846
    2. The aim of this study was to screen the visual system homeobox 1 (VSX1) gene in Turkish patients with keratoconus PMID: 27819732
    3. We cannot confirm the previously reported association of the polymorphism in the VSX1 gene with keratoconus (KC). Our results suggest a possible causative role of SOD1 in the pathogenesis of KC. PMID: 24099280
    4. novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India PMID: 25963163
    5. Our findings confirmed previous reports that polymorphisms of VSX1 and IL1A genes were associated with risk of keratoconus in the Chinese population PMID: 23289806
    6. Our investigation showed that Keratoconus-related VSX1 mutations were found in a very small proportion of the studied patients from Iran. PMID: 24107477
    7. This study reports the presence of pathogenic mutations in VSX1 in posterior polymorphous dystrophy and keratoconus. PMID: 23592923
    8. lack of VSX1 pathogenic variations in a large number of unrelated sporadic keratoconus patients tend to omit its role, and corroborate the involvement of other genetic, environmental or behavioural factors in the development of this complex disorder PMID: 23506487
    9. Our results suggest that the VSX1 gene and its mutations with amino acid changes do not play a major role in the pathogenesis of keratoconus. PMID: 22531431
    10. A significant association between keratoconus patients and VSX1 genetic alterations, is reported. PMID: 22171159
    11. A novel mutation p.G239R and previously reported mutations were found in VSX1 in Italian patients with keratoconus. PMID: 21976959
    12. VSX1 may have an important role in the pathogenesis of keratoconus. PMID: 21365019
    13. In the keratoconus cohort, no pathogenic VSX1 mutation(s) were identified. PMID: 21403853
    14. VSX1has a minor role in keratoconus pathogenesis. PMID: 19763142
    15. In mice, Vsx1 mRNA, protein or reporter gene expression is not detected in the normal or damaged cornea. PMID: 21437200
    16. No pathogenic VSX1 mutation was identified. PMID: 21139977
    17. The absence of pathogenic mutations in VSX1 gene in our large number of unrelated keratoconus patients indicates that other genetic factors are involved in the development of this disorder PMID: 20664914
    18. The absence of pathogenic mutations in our large number of unrelated patients with KC (keratoconus) indicates that other genetic factors are involved in the development of this disorder. PMID: 20023586
    19. Mutations in VSX1 homeobox gene results in impaired DNA binding and is associated with posterior polymorphous dystrophy and keratoconus PMID: 11978762
    20. The new mutation in the VSX1 (RINX) gene described in this report results in abnormal craniofacial features, absence of the roof of the sella turcica, and anomalous development of the corneal endothelium. PMID: 15051220
    21. Mutational analysis of the VSX1 gene in a series of Italian patients revealed one novel mutation and confirmed an important role played by this gene in a significant proportion of patients affected by keratoconus PMID: 15623752
    22. CHX10 and VSX1 may control retinal bipolar cell specification or differentiation by repressing genes required for the development of other cell types PMID: 15647262
    23. The human VSX1 is required for cone ON bipolar cell function but not for rod and cone OFF bipolar cells, giving a unique example of such a selective heritable retinal defect in humans. PMID: 16384943
    24. The absence of pathogenic mutations in the VSX1 gene in a large number of unrelated KTCN (keratoconus) patients indicates that other genetic factors are involved in the development of this disorder. PMID: 16799019
    25. The results show that VSX1 is expressed in vitro and in vivo during human corneal wound healing, a process in which differentiation of corneal keratocytes into myofibroblasts occurs. PMID: 17122109
    26. We excluded c.432C>G sequence alteration as cause. Involvement of this gene in pathogenesis of keratoconus is likely to be confined to a small number of pedigrees. PMID: 17960127
    27. We cannot confirm the previously reported association of the polymorphism in the VSX1 gene with keratoconus. PMID: 18216574
    28. First documentation of VSX1 expression in human neonatal cornea. Full genomic sequence of VSX1 and coding exons of three other candidate genes were excluded from being pathogenic in original posterior polymorphous corneal dystrophy family. PMID: 18253095
    29. VSX1 gene mutation is associated with keratoconus PMID: 18484309
    30. VSX1 gene variants seem to be significant genetic variants for keratoconus predisposition in unrelated Korean patients. PMID: 18626569
    31. The results exclude VSX1 and SOD1 as potential disease-causing genes in these families and localize a novel gene for keratoconus to a 5.6-Mb interval on 13q32. PMID: 19011015
    32. The absence of pathogenic mutations in the VSX-1 gene in affected family members of 3 pedigrees indicates that other genetic factors are involved in the development of familial Fuchs endothelial corneal dystrophy. PMID: 19507099
    33. This is the first report from the Indian subcontinent exploring the role of VSX1 in the causation of keratoconus. PMID: 19956409

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  • 相关疾病：
    Keratoconus 1 (KTCN1); Craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS)
  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    Paired homeobox family
  • 组织特异性：
    In the adult eye, expressed in lens, iris, ciliary body, choroid, optical nerve head and, most strongly, in retina, but not expressed in sclera and cornea. According to PubMed:11978762, expressed in adult retina but not in lens and cornea. Within adult re
  • 数据库链接：

    HGNC: 12723

    OMIM: 148300

    KEGG: hsa:30813

    STRING: 9606.ENSP00000365899

    UniGene: Hs.274264