Overview

Description

  • NatureRecombinant
  • SourceEscherichia coli
  • Amino Acid Sequence
    • AccessionQ96NR8
    • SpeciesHuman
    • SequenceMGSSHHHHHH 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
    • Molecular weight34 kDa including tags
    • Amino acids39 to 316
    • TagsHis tag N-Terminus

Specifications

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.

  • Applications

    SDS-PAGE

  • Purity> 90 % SDS-PAGE.
    ab119458 was purified using conventional chromatography techniques.
  • FormLiquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    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

General Info

  • Alternative names
    • 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
  • FunctionExhibits 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.
  • Tissue specificityWidely expressed, mostly in eye, kidney, brain, skeletal msucle and stomach.
  • Involvement in diseaseDefects 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.
  • Sequence similaritiesBelongs to the short-chain dehydrogenases/reductases (SDR) family.
  • Information by UniProt

Recombinant Human RDH12 protein images

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

References for Recombinant Human RDH12 protein (ab119458)

ab119458 has not yet been referenced specifically in any publications.

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