AAC50725.1
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
11-cis retinol dehydrogenase
NCBI Official Synonym Full Names
retinol dehydrogenase 5 (11-cis/9-cis)
NCBI Protein Information
11-cis retinol dehydrogenase; 11-cis RDH; 11-cis RoDH; retinol dehydrogenase 1; 9-cis retinol dehydrogenase; 9-cis-retinol specific dehydrogenase; retinol dehydrogenase 5 (11-cis and 9-cis); short chain dehydrogenase/reductase family 9C, member 5
UniProt Protein Name
11-cis retinol dehydrogenase
UniProt Synonym Protein Names
9-cis retinol dehydrogenase; 9cRDH
UniProt Synonym Gene Names
UniProt Entry Name
RDH1_HUMAN
NCBI Summary for RDH5
This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]
UniProt Comments for RDH5
RDH5: Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol, but not all- trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP. Defects in RDH5 are a cause of retinitis punctata albescens (RPA); also known as fundus albipunctatus (FA). RPA is a rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments. Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Protein type: Cofactor and Vitamin Metabolism - retinol; Oxidoreductase; EC 1.1.1.315; Endoplasmic reticulum
Chromosomal Location of Human Ortholog: 12q13-q14
Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum lumen
Molecular Function: retinol dehydrogenase activity
Biological Process: phototransduction, visible light; visual perception; retinol metabolic process; retinoid metabolic process
Disease: Fundus Albipunctatus
Research Articles on RDH5
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Products associated with RDH5 elisa kit
Pathways associated with RDH5 elisa kit
Diseases associated with RDH5 elisa kit
Organs/Tissues associated with RDH5 elisa kit
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