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  4. Recombinant Human Retinitis pigmentosa 1-like 1 protein (RP1L1), partial

Recombinant Human Retinitis pigmentosa 1-like 1 protein (RP1L1), partial

  • 中文名称：
    人RP1L1重组蛋白
  • 货号：
    CSB-YP812881HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人RP1L1重组蛋白
  • 货号：
    CSB-EP812881HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人RP1L1重组蛋白
  • 货号：
    CSB-EP812881HU-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：
  • 中文名称：
    人RP1L1重组蛋白
  • 货号：
    CSB-BP812881HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人RP1L1重组蛋白
  • 货号：
    CSB-MP812881HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    RP1L1
  • Uniprot No.：
    Q8IWN7
  • 别名：
    RP1L1; Retinitis pigmentosa 1-like 1 protein
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 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：
    Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors.
  • 基因功能参考文献：
    1. the presence of pathogenic RP1L1 variants is significantly associated with characteristic abnormalities of the photoreceptor layer in the macular region (e.g., blurring of the ellipsoid zone [EZ] and absence of the interdigitation zone PMID: 29196766
    2. We propose that the combination of heterozygous loss-of-function mutations in these genes drives syndromic retinal dystrophy, likely through the genetic interaction of at least two loci. PMID: 27029556
    3. A unique motif including six amino acids (1196-1201) downstream of the doublecortin domain could be a hot spot for RP1L1 pathogenic variants. The significant association of the morphologic phenotypes and genotypes indicates that there are two types of pathophysiology underlying the occult macular dysfunction syndrome PMID: 27623337
    4. A p.Arg45Trp mutation in the RP1L1 gene was identified in the Occult macular dystrophy patient, in the two symptomatic offspring and also in two of the asymptomatic siblings of the patient. PMID: 26782618
    5. findings indicate that a homozygous p.S1210P exchange in the RP1L1 gene can cause cone dystrophy PMID: 25692141
    6. We describe in detail a case of bilateral chronic subfoveal serous retinal detachment in an atypical occult macular dystrophy patient carrying a novel heterozygous RP1L1 mutation (p.S1199P) PMID: 24838559
    7. Occult macular dystrophy is a genetically heterogeneous disorder in a white family of European descent, screened for genetic mutations in the RP1L1 gene. PMID: 23229695
    8. These findings indicate that the phenotype in some cases of occult macular dystrophy with an Arg45Trp mutation in the RP1L1 gene can be unilateral for a considerable period. PMID: 23619761
    9. Our study revealed that the previously identified mutation in the retinitis pigmentosa 1L1 gene from Japanese families, R45W3, also was found in Korean occult macular degeneration patients. PMID: 23745001
    10. RP1L1 mutations are associated with retinal diseases, including retinitis pigmentosa and occult macular dystrophy. PMID: 23281133
    11. The clinical phenotypes differed between the proband and her mother and were indistinguishable from other sporadic or RP1L1-unassociated OMD patients, suggesting that mutation-dependent clinical features may not be present. PMID: 22504327
    12. The abnormalities in the multifocal electroretinograms and optical coherence tomography observed in the occult macular dystrophy patients of different durations strongly support the contribution of RP1L1 mutation to the presence of this disease. PMID: 22466457
    13. Amino acid substitution of p.Arg45Trp in retinitis pigmentosa 1-like 1 (RP1L1) was found in three occult macular dystrophy (OMD)families and p.Trp960Arg in a remaining OMD family. PMID: 20826268
    14. The RP1L1 gene encodes a large, highly polymorphic, retinal-specific protein. No RP1L1 disease-causing mutations were identified in any of the samples tested. PMID: 12724644

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  • 相关疾病：
    Occult macular dystrophy (OCMD)
  • 亚细胞定位：
    Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, cilium, photoreceptor outer segment.
  • 组织特异性：
    Retinal-specific; expressed in photoreceptor.
  • 数据库链接：

    HGNC: 15946

    OMIM: 608581

    KEGG: hsa:94137

    STRING: 9606.ENSP00000371923

    UniGene: Hs.33538

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