Retinol dehydrogenase 12 Recombinant Protein | RDH12 recombinant protein
Recombinant human Retinol dehydrogenase 12
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]
Uniprot Description
RDH12: 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. Defects in RDH12 are the cause of Leber congenital amaurosis type 13 (LCA13). 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). 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. Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Protein type: Cofactor and Vitamin Metabolism - retinol; EC 1.1.1.-; Oxidoreductase
Chromosomal Location of Human Ortholog: 14q24.1
Cellular Component: intracellular
Molecular Function: protein binding; retinol dehydrogenase activity
Biological Process: photoreceptor cell maintenance; retinoid metabolic process; retinol metabolic process; visual perception
Disease: Leber Congenital Amaurosis 13
Research Articles on RDH12
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Product Notes
The RDH12 rdh12 (Catalog #AAA9421306) is a Recombinant Protein produced from E Coli and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is Full Length, 1-316aa. The Recombinant human Retinol dehydrogenase 12 reacts with Human and may cross-react with other species as described in the data sheet. It is sometimes possible for the material contained within the vial of "Retinol dehydrogenase 12, Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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