Recombinant人RDH12 protein (ab119458)

概述

描述

  • 性质Recombinant
  • 来源Escherichia coli
  • 氨基酸序列
    • AccessionQ96NR8
    • 种属Human
    • 序列MGSSHHHHHH SSGLVPRGSH MGSHM SIRAFAEGFL AEEKQLHILI NNAGVMMCPY SKTADGFETH LGVNHLGHFL LTYLLLERLK VSAPARVVNV SSVAHHIGKI PFHDLQSEKR YSRGFAYCHS KLANVLFTRE LAKRLQGTGV TTYAVHPGVV RSELVRHSSL LCLLWRLFSP FVKTAREGAQ TSLHCALAEG LEPLSGKYFS GKVVV ITGANTGIGK ETARELASRG ARVYIACRDV LKGESAASEI RVDTKNSQVL VRKLDLSDTK DCKRTWVSPR ARNNKTAERL WNVSCELLGI RWE
    • 分子量34 kDa including tags
    • 氨基酸39 to 316
    • 标签His tag N-Terminus

技术指标

Our Abpromise guarantee covers the use of ab119458 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • 应用

    SDS-PAGE

  • 纯度> 90 % SDS-PAGE.
    ab119458 was purified using conventional chromatography techniques.
  • 形式Liquid
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.32% Tris HCl, 1.17% Sodium chloride, 0.03% DTT, 40% Glycerol

常规信息

  • 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
    • Retinol dehydrogenase 12 (all trans/9 cis/11 cis)
    • Retinol dehydrogenase 12 all trans and 9 cis
    • RP53
    • SDR7C2
    • Short chain dehydrogenase/reductase family 7C member 2
    see all
  • 功能Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments.
  • 组织特异性Widely expressed, mostly in eye, kidney, brain, skeletal msucle and stomach.
  • 疾病相关Defects in RDH12 are the cause of Leber congenital amaurosis type 13 (LCA13) [MIM:612712]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.
    Defects in RDH12 are the cause of retinitis pigmentosa type 53 (RP53) [MIM:612712]. RP53 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
  • 序列相似性Belongs to the short-chain dehydrogenases/reductases (SDR) family.
  • Information by UniProt

Recombinant Human RDH12 protein 图像

  • 15% SDS-PAGE showing ab119458 at approximately 33.5kDa (3µg).

Recombinant Human RDH12 protein (ab119458)参考文献

ab119458 has not yet been referenced specifically in any publications.

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