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RDH5 Antibody

  • 货号：
    CSB-PA856423ESR1HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human testis tissue using CSB-PA856423ESR1HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human colon tissue using CSB-PA856423ESR1HU at dilution of 1:100
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) RDH5 Polyclonal antibody
  • Uniprot No.：
    Q92781
  • 基因名：
    RDH5
  • 别名：
    RDH5 antibody; HSD17B9 antibody; RDH1 antibody; SDR9C5 antibody; Retinol dehydrogenase 5 antibody; EC 1.1.1.209 antibody; EC 1.1.1.315 antibody; EC 1.1.1.53 antibody; 11-cis retinol dehydrogenase antibody; 11-cis RDH antibody; 11-cis RoDH antibody; 9-cis retinol dehydrogenase antibody; 9cRDH antibody; Short chain dehydrogenase/reductase family 9C member 5 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human 11-cis retinol dehydrogenase protein (24-318AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:20-1:200
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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