NP_689656.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
35,094 Da
NCBI Official Full Name
retinol dehydrogenase 12
NCBI Official Synonym Full Names
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
NCBI Protein Information
retinol dehydrogenase 12
UniProt Protein Name
Retinol dehydrogenase 12
UniProt Synonym Protein Names
All-trans and 9-cis retinol dehydrogenase; Short chain dehydrogenase/reductase family 7C member 2
UniProt Synonym Gene Names
UniProt Entry Name
RDH12_HUMAN
NCBI Summary for RDH12
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 Comments for RDH12
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
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Pathways associated with anti-RDH12 antibody
Diseases associated with anti-RDH12 antibody
Organs/Tissues associated with anti-RDH12 antibody
|