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  4. Recombinant Human Cone-rod homeobox protein (CRX)

Recombinant Human Cone-rod homeobox protein (CRX)

  • 货号：
    CSB-YP006004HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP006004HU-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-BP006004HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP006004HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    CRX
  • Uniprot No.：
  • 别名：
    Cone rod homeobox; Cone rod homeobox protein; Cone rod homeobox-containing gene; cone-rod homeobox; Cone-rod homeobox protein; CORD 2; CRD; CRX; CRX_HUMAN; LCA 7; LCA7; Orthodenticle homeobox 3; OTX 3; OTX3
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-299
  • 氨基酸序列
    MMAYMNPGPH YSVNALALSG PSVDLMHQAV PYPSAPRKQR RERTTFTRSQ LEELEALFAK TQYPDVYARE EVALKINLPE SRVQVWFKNR RAKCRQQRQQ QKQQQQPPGG QAKARPAKRK AGTSPRPSTD VCPDPLGISD SYSPPLPGPS GSPTTAVATV SIWSPASESP LPEAQRAGLV ASGPSLTSAP YAMTYAPASA FCSSPSAYGS PSSYFSGLDP YLSPMVPQLG GPALSPLSGP SVGPSLAQSP TSLSGQSYGA YSPVDSLEFK DPTGTWKFTY NPMDPLDYKD QSAWKFQIL
  • 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：
    Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, such as NRL, RORB and RAX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors.
  • 基因功能参考文献：
    1. that two photoreceptor-specific transcription factors, NRL and CRX, are master regulators of this program and are required for tumor maintenance in this subgroup PMID: 29533784
    2. A novel CRX pathogenic variant has been identified in our patients. The novel pathogenic variant seems to have a different effect on the phenotype of cone-rod dystrophy. PMID: 30078014
    3. A sensitive and simple method of tumour cell assessment has been developed that can be used in the clinics to assess for potential extraocular dissemination after intravitreal injections to assure its performance. PMID: 29089355
    4. we revealed a novel frameshift mutation (NM_000554.4:c.538dupG:p.Val180fs) in exon 4 of the CRX gene in a Chinese family with Cone-rod dystrophy. This study broadens the known pathogenic mutation spectrum of the CRX gene and contributes to improved genetic counseling for Cone-rod dystrophy patients. PMID: 30095615
    5. analysis of a homozygous nonsense mutation in SAMD11 in five individuals diagnosed with adult-onset retinitis pigmentosa; SAMD11 interacts with CRX and is expressed in retina PMID: 27734943
    6. CRX mutations are associated with a variety of clinical phenotypes, including an adult-onset macular dystrophy that simulates benign concentric annular macular dystrophy with a bull's eye macular lesion and fairly well preserved visual acuity. PMID: 28945142
    7. data demonstrate the successful application of ZFN technology to generate CRX-GFP labeled hESC lines, which can be used to study and isolate photoreceptor precursors during hESC differentiation. PMID: 26608863
    8. Loss of OTX2 expression resulted in decreased expression of C-MYC and CRX, genes previously implicated in retinoblastoma tumorigenesis. Loss of OTX2 expression increased the phosphorylation of RB, a potential mechanism of modulating cell proliferation PMID: 26397460
    9. Mutations involving the CRX gene may demonstrate an autosomal dominant inheritance pattern for leber congenital amaurosis. PMID: 24093488
    10. Con rod homeobox protein mRNA is a novel marker for retinoblastoma at extraocular sites. PMID: 25928893
    11. Two de novo mutations in CRX were found in Chinese patients with Leber congenital amaurosis. The CRX mutation might create a dominantly inherited trait. PMID: 24001014
    12. Mutations in CRX demonstrate significant phenotypic heterogeneity both between and within pedigrees. A novel, adult-onset, macular dystrophy phenotype is characterized, further extending our knowledge of the etiology of dominant macular dystrophies. PMID: 25270190
    13. CRX could be useful in surgical neuropathology for the differential diagnosis of pineal region tumors, in particular to discriminate pineal tumors from glial tumors PMID: 24555912
    14. Data have identified a novel retinal SAM domain protein, Samd7, which could act as a transcriptional repressor involved in fine-tuning of Crx-regulated gene expression. PMID: 23565263
    15. the potential utility of CRX as a marker of pineal lineage in routine diagnostic neuropathology. PMID: 23235340
    16. In this study, three variations were detected in 3 of 130 families with CORD, including two novel mutations, c.239A>G (p.Glu80Gly) and c.362C>T (p.Ala121Val) PMID: 22960069
    17. These findings suggest that CRX is a useful marker to discriminate metastatic retinoblastoma from other, more common, malignant small round cell tumors of childhood PMID: 22790857
    18. Photosensitive photoreceptor cells can be generated by combinations of transcription factors. The combination of CRX and RX generate immature photoreceptors: and additional NEUROD promotes maturation. PMID: 22558175
    19. Data show no interaction of barrier-to-autointegration factor (BAF) with HIV-1 MA, cone-rod homeobox (Crx) or MAN1-C in absence of DNA. PMID: 21966431
    20. CRX has a role in retinal and pineal lineage tumors PMID: 19936203
    21. DNA-binding domain mutations in NR2E3 affect in vivo dimerization and interaction with CRX PMID: 19823680
    22. Two patients with Leber congenital amaurosis who carried heterozygously one of two novel frameshift mutations. PMID: 11748859
    23. The frameshift mutation in CRX gene in the patient with Leber congenital amaurosis did not cause impairment in vision PMID: 11910559
    24. results support the hypothesis that CRX mutations involved in human photoreceptor degeneration act by impairing CRX-mediated transcriptional regulation of the photoreceptor genes PMID: 11971869
    25. A novel frameshift mutation was detected in exon III of the CRX retinal homeobox gene. PMID: 12359607
    26. both Nrl and Crx are required for full transcriptional activity of the PDE6A gene PMID: 15001570
    27. A 615delC mutation in the CRX gene was identified and found to cosegregate with cone-rod dystrophy PMID: 15531334
    28. Nr2e3 is a dual-function transcriptional regulator that acts in concert with Crx to promote and maintain the function of rod photoreceptors. PMID: 15689355
    29. description of a 2-generation family with a novel mutation in CRX; the resulting phenotype is that of cone-rod dystrophy with variable age at onset and progression PMID: 17320181
    30. Transmission of the disease through three generations provides evidence that Lebers congenital amaurosis is transmitted as an autosomal dominant trait. PMID: 17347810
    31. s identified a novel disease causing mutation, c.636delC, in the CRX gene, associated with autosomal dominant cone-rod dystrophy PMID: 18653602
    32. CRX expression in the inner nuclear layer of the retina. PMID: 19686387

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  • 相关疾病：
    Leber congenital amaurosis 7 (LCA7); Cone-rod dystrophy 2 (CORD2); Retinitis pigmentosa (RP)
  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    Paired homeobox family
  • 组织特异性：
    Retina.
  • 数据库链接：

    HGNC: 2383

    OMIM: 120970

    KEGG: hsa:1406

    STRING: 9606.ENSP00000221996

    UniGene: Hs.617342