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FLASH GENE
Symbol RDH8 contributors: mct - updated : 18-03-2015
HGNC name retinol dehydrogenase 8 (all-trans)
HGNC id 14423
Location 19p13.2      Physical location : 10.123.924 - 10.132.953
Synonym name photoreceptor outer segment all-trans retinol dehydrogenase
Synonym symbol(s) PRRDH, SDR28C2
EC.number 1.1.1.300
DNA
TYPE functioning gene
STRUCTURE 9.03 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 1714 - 331 - -
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Skin/Tegumentskin    
Visualeyeretina   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Visualcone photoreceptor Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • short chain dehydrogenase
  • C-terminal(V/I)XPX sequence is a general outer segment localization signal that can function in the context of both integral and peripheral membrane proteins
  • HOMOLOGY
    Homologene
    FAMILY dehydrogenase/reductase family
    CATEGORY enzyme , receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text
  • localizes to photoreceptor outer segments
  • basic FUNCTION
  • reduction of all-trans-retinal most noticeably at higher light intensities and prolonged illumination
  • catalyzes reduction of all-trans-retinal in the rod outer segment, most noticeably at higher light intensities and prolonged illumination, but is not an essential enzyme of the retinoid cycle
  • RDH8 is necessary for reducing the bulk of the all-trans-retinal released by photoactivated rhodopsin in the outer segment
  • RDH12, RDH8, both enzymes are required to reduce all-trans-retinal generated after bleaching and present in both photoreceptor inner and outer segments
  • RDH8 activity is essential for reducing the majority of the retinal generated in the outer segment
  • is responsible for reducing the bulk of the all-trans-retinal released from photoactivated rhodopsin after light exposure, but some retinal leaks to the inner segment, even in the presence of RDH8
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking both the ATP-binding cassette transporter 4 (Abca4) and enzyme retinol dehydrogenase 8 (Rdh8), proteins critical for all-trans-retinal clearance from photoreceptors, developed severe RPE/photoreceptor dystrophy at an early age
  • progression of retinal degeneration in Rdh8(-/-) Abca4(-/-) mice is affected by differential vulnerability of rods and cones to light