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  4. Recombinant Human 11-cis retinol dehydrogenase (RDH5)

Recombinant Human 11-cis retinol dehydrogenase (RDH5)

  • 中文名称：
    人RDH5重组蛋白
  • 货号：
    CSB-YP856423HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人RDH5重组蛋白
  • 货号：
    CSB-EP856423HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人RDH5重组蛋白
  • 货号：
    CSB-EP856423HU-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RDH5重组蛋白
  • 货号：
    CSB-BP856423HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人RDH5重组蛋白
  • 货号：
    CSB-MP856423HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    RDH5
  • Uniprot No.：
  • 别名：
    RDH5; HSD17B9; RDH1; SDR9C5; Retinol dehydrogenase 5; EC 1.1.1.209; EC 1.1.1.315; EC 1.1.1.53; 11-cis retinol dehydrogenase; 11-cis RDH; 11-cis RoDH; 9-cis retinol dehydrogenase; 9cRDH; Short chain dehydrogenase/reductase family 9C member 5
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    24-318
  • 氨基酸序列
    LPASNAF VFITGCDSGF GRLLALQLDQ RGFRVLASCL TPSGAEDLQR VASSRLHTTL LDITDPQSVQ QAAKWVEMHV KEAGLFGLVN NAGVAGIIGP TPWLTRDDFQ RVLNVNTMGP IGVTLALLPL LQQARGRVIN ITSVLGRLAA NGGGYCVSKF GLEAFSDSLR RDVAHFGIRV SIVEPGFFRT PVTNLESLEK TLQACWARLP PATQAHYGGA FLTKYLKMQQ RIMNLICDPD LTKVSRCLEH ALTARHPRTR YSPGWDAKLL WLPASYLPAS LVDAVLTWVL PKPAQAVY
  • 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：
    Catalyzes the oxidation of cis-isomers of retinol, including 11-cis-, 9-cis-, and 13-cis-retinol in an NAD-dependent manner. Has no activity towards all-trans retinal. Plays a significant role in 11-cis retinol oxidation in the retinal pigment epithelium cells (RPE). Also recognizes steroids (androsterone, androstanediol) as its substrates.
  • 基因功能参考文献：
    1. a novel homozygous missense mutation, (c.602 C > T) in exon 4 of the RDH5 gene (MIM: 601617) was identified. This mutation resulted in substitution of phenyl alanine for serine at amino acid 201 (p.Ser201Phe) of the RDH5 gene. Identification of this mutation reveals the allelic heterogeneity of RDH5 in patients with retinitis pigmentosa phenotype. PMID: 29892959
    2. We conclude that the expression of Rlbp1 and Rdh5 critically depends on functional Mitf in the RPE and suggest that MITF has an important role in controlling retinoid processing in the RPE. PMID: 26876013
    3. A novel c.832C>T (p.Arg278Ter) nonsense mutation in RDH5 was identified. Preserved rod function was observed in one young subject in this study. PMID: 25170858
    4. Macular cone density is lower and the regularity of the macular cone mosaic spatial arrangement is disrupted in eyes with fundus albipunctatus. PMID: 24246574
    5. RDH5 sequence analysis revealed a novel five base pair deletion, c.913_917delGTGCT (p.Val305Hisfs*29), in family A, and a novel missense mutation, c.758T>G (p.Met253Arg), in family B with fundus albipunctatus. PMID: 22736946
    6. Four novel RDH5 gene mutations were identified in fundus albipunctatus Israeli patients. Of them, the null mutations c.343C>T (p.R54X) and c. 242delTGCC were the most prevalent. PMID: 22815624
    7. The proband had a compound heterozygotic missense mutation of Cys59Ser (TGC --> AGC) and a nonsense mutation of Trp95ter (TGG --> TGA) in the RDH5 gene. PMID: 22669287
    8. The clinical and electrophysiologic phenotype of patients with RDH5 retinopathy is variable. PMID: 21529959
    9. Mutations in RDH5 associated with fundus albipunctatus seem to prevent normal lipofuscin accumulation. PMID: 20829743
    10. An amino acid important for steroid/retinoid discrimination was identified and its significance was highlighted by the results of molecular modeling studies. PMID: 20382160
    11. Macular dystrophy is caused by the RDH5 mutation as a phenotype variation in fundus albipunctus. PMID: 11812441
    12. Macular dystrophy is caused by the RDH5 gene mutation as a phenotype variation in fundus albipunctatus. PMID: 12788147
    13. Fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene. PMID: 12860821
    14. RDH5 gene mutations cause a progressive cone dystrophy or macular dystrophy as well as night blindness. The clinical phenotype including electrophysiological responses varied among patients with the RDH5 gene mutations. PMID: 12906118
    15. A homozygous G490T (Val164Phe) missense RDH5 gene mutation was detected. PMID: 12967826
    16. Homozygous Gly107Arg mutation in the RDH5 gene in two unrelated Japanese families with fundus albipunctatus. PMID: 15007239
    17. Cone dystrophy can be present in patients with fundus albipunctatus, not only elderly men but also young women. PMID: 15302662
    18. Our study indicates that different mutations in the RDH5 gene can cause phenotypic variations of either fundus albipunctatus or familial fleck retina with night blindness. PMID: 16637847
    19. study describes an unusual family which included a mother with fundus albipunctatus and three children with typical retinitis pigmentosa; a novel RDH5 mutation was found PMID: 18363170

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  • 相关疾病：
    Fundus albipunctatus (FALBI)
  • 亚细胞定位：
    Endoplasmic reticulum membrane; Multi-pass membrane protein; Lumenal side.
  • 蛋白家族：
    Short-chain dehydrogenases/reductases (SDR) family
  • 组织特异性：
    Widely expressed. In the eye, abundant in the retinal pigment epithelium.
  • 数据库链接：

    HGNC: 9940

    OMIM: 136880

    KEGG: hsa:5959

    STRING: 9606.ENSP00000257895

    UniGene: Hs.600940