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  4. Recombinant Human Retinol dehydrogenase 12 (RDH12)

Recombinant Human Retinol dehydrogenase 12 (RDH12)

  • 中文名称：
    人RDH12重组蛋白
  • 货号：
    CSB-EP842727HU
  • 规格：
    ￥1344
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
    RDH12
  • Uniprot No.：
  • 别名：
    All trans and 9 cis retinol dehydrogenase; All-trans and 9-cis retinol dehydrogenase; LCA 3; LCA13; LCA3; RDH 12; RDH12; RDH12_HUMAN; Retinol dehydrogenase 12 (all trans/9 cis/11 cis); Retinol dehydrogenase 12 all trans and 9 cis; Retinol dehydrogenase 12; RP53; SDR7C2; Short chain dehydrogenase/reductase family 7C member 2
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length
  • 来源：
    E.coli
  • 分子量：
    51.1kDa
  • 表达区域：
    1-316aa
  • 氨基酸序列
    MLVTLGLLTSFFSFLYMVAPSIRKFFAGGVCRTNVQLPGKVVVITGANTGIGKETARELASRGARVYIACRDVLKGESAASEIRVDTKNSQVLVRKLDLSDTKSIRAFAEGFLAEEKQLHILINNAGVMMCPYSKTADGFETHLGVNHLGHFLLTYLLLERLKVSAPARVVNVSSVAHHIGKIPFHDLQSEKRYSRGFAYCHSKLANVLFTRELAKRLQGTGVTTYAVHPGVVRSELVRHSSLLCLLWRLFSPFVKTAREGAQTSLHCALAEGLEPLSGKYFSDCKRTWVSPRARNNKTAERLWNVSCELLGIRWE
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 6xHis-SUMO-tagged
  • 产品提供形式：
    Liquid or 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.
  • 缓冲液：
    Tris-based buffer,50% glycerol
  • 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：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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 & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Retinoids dehydrogenase/reductase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinal. Shows very weak activity towards 13-cis-retinol. Also exhibits activity, albeit with lower affinity than for retinaldehydes, towards lipid peroxidation products (C9 aldehydes) such as 4-hydroxynonenal and trans-2-nonenal. May play an important function in photoreceptor cells to detoxify 4-hydroxynonenal and potentially other toxic aldehyde products resulting from lipid peroxidation. Has no dehydrogenase activity towards steroids.
  • 基因功能参考文献：
    1. The RDH12 compound heterozygous variants might be the cause of the LCA family. Our study adds to the molecular spectrum of RDH12-related retinopathy and offers an effective example of the power of phenotype-genotype correlations in molecular diagnosis of LCA. PMID: 28471114
    2. Peripapillary sparing is a novel phenotypic feature of RDH12-associated Leber congenital amaurosis. PMID: 28513254
    3. The mutation detection of RDH12 in this study also implies that whole exome sequencing is a useful method for detection of potential mutations in small families with atypical clinical manifestations of genetic disease. PMID: 26848971
    4. We report 4 children from 3 consanguineous families with bilateral elevation deficiency in the context of retinal dystrophy. All were found to harbor recessive mutations in retinal dehydrogenase 12 (RDH12). PMID: 26691045
    5. Mutations in the AIPL1 and RDH12 genes associated with leber congenital amaurosis in two Turkish families. PMID: 25148430
    6. Here we demonstrate that microtubule-associated protein 1 light chain 3A (LC3A), a marker of autophagy, is related to hypoxia and poor prognosis in clear cell ovarian cancer. PMID: 22926683
    7. The three patients with Leber congenital amaurosis/early-onset retinal dystrophy had a progressive decrease of their vision with the formation of a posterior staphyloma. PMID: 24752437
    8. Two novel missense mutations in the RDH12 gene are associated with retinitis pigmentosa. PMID: 23900199
    9. Seventeen novel mutations in the RDH12 gene were identified that accounted for approximately 7% of disease in a cohort of patients diagnosed with Leber congenital amaurosis and early-onset retinal dystrophy. PMID: 22065924
    10. LCA has been associated with sequence variations of 14 different genes; in approximately 30% of all cases pathogenic mutations remain to be determined. PMID: 20736127
    11. The retina RDH12 reduces 4-HNE to a nontoxic alcohol, protecting cellular macromolecules against oxidative modification and protecting photoreceptors from light-induced apoptosis. PMID: 19686838
    12. Results suggest that the accelerated degradation of RDH12 mutants by the ubiquitin-proteasome system contributes to the pathophysiology and phenotypic variability associated with mutations in the RDH12 gene. PMID: 20006610
    13. Our studies show that RDH12 is associated with retinal dystrophy and encodes an enzyme with a unique, nonredundant role in the photoreceptor cells. PMID: 15258582
    14. All patients harboring RDH12 mutations had a severe yet progressive rod-cone dystrophy with severe macular atrophy but no or mild hyperopia. PMID: 15322982
    15. In most tissues RDH12 primarily contributes to the reduction of all-trans-retinaldehyde; however, in cells undergoing oxidative stress, such as photoreceptors, RDH12 might also play a role in detoxification of lipid peroxidation products. PMID: 15865448
    16. The results demand critical consideration of the human disease mechanism and the therapeutic approach in patients with mutations in the putative visual cycle gene RDH12. PMID: 17197551
    17. Ophthalmic findings in persons with RDH12 mutations suggest that RDH12 loss-of-function results in a characteristic form of early and progressive rod-cone degeneration PMID: 17389517
    18. Human type 12 RDH reduces dihydrotestosterone to androstanediol, and is thus involved in steroid metabolism. PMID: 17512723
    19. in patients with Leber congenital amaurosis, autosomal recessive retinitis pigmentosa, and autosomal dominant/recessive cone-rod dystrophies six different variants of RDH12 were observed of which three variants were novel PMID: 17512964
    20. The demonstration that mutations in a gene previously associated with recessive Leber congenital amaurosis can also cause dominant RP illustrates the wide phenotypic variability of retinal degeneration genes. PMID: 18779497
    21. The RDH12-associated phenotype is not homogeneous, the position and nature of the mutations clearly influence the pathologic expression of this disease. PMID: 19011012

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  • 相关疾病：
    Leber congenital amaurosis 13 (LCA13); Retinitis pigmentosa 53 (RP53)
  • 亚细胞定位：
    Endoplasmic reticulum membrane.
  • 蛋白家族：
    Short-chain dehydrogenases/reductases (SDR) family
  • 组织特异性：
    Widely expressed, mostly in retina, kidney, brain, skeletal muscle, pancreas and stomach.
  • 数据库链接：

    HGNC: 19977

    OMIM: 608830

    KEGG: hsa:145226

    STRING: 9606.ENSP00000267502

    UniGene: Hs.415322