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FLASH GENE
Symbol RDH12 contributors: mct/pgu - updated : 22-03-2015
HGNC name retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
HGNC id 19977
Corresponding disease
LCA13 Leber congenital amaurosis, type 13
RP53 retinitis pigmentosa 53
Location 14q24.1      Physical location : 68.168.602 - 68.201.167
Synonym name
  • candidate gene for retinal disease 8
  • retinol dehydrogenase 12 (all-trans and 9-cis)
  • short chain dehydrogenase/reductase family 7C, member 2
  • Synonym symbol(s) FLJ30273, CGRD8, LCA3, SDR7C2
    EC.number 1.1.1.-
    DNA
    TYPE anonymous DNA segment
    SPECIAL FEATURE head to head, opposite orientation
    text in the 3'-RDH11-5' 5'RDH12-3' orientation
    STRUCTURE 32.57 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    regionally located ~30kb from the RDH11 gene
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1934 - 316 - 2002 12226107
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     liver   lowly
     stomach   lowly
    Nervousbrainhindbraincerebellum lowly
     braindiencephalonthalamus lowly
    Skin/Tegumentskin   lowly
    Urinarykidney   moderately
    Visualeyeretina  predominantly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal lowly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eyes, lens, eye anterior segment, optic nerve, retina, retina foveal and macular, RPE and choroid
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two motifs highly conserved among short chain alcohol dehydrogenases/reductases
  • the cofactor-binding site and catalytic residues
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to rattus Rdh12 (86.39 pc)
    homolog to murine Rdh12 (86.08 pc)
    intraspecies homolog to RDH11
    Homologene
    FAMILY
  • short-chain dehydrogenases/reductases (SDR) family
  • glucose/ribitol dehydrogenase family signature
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • short chain alcohol dehydrogenase activity
  • involved in metabolims of short chain aldehydes
  • may be the key enzyme in formation of 11-cis-retinal during regeneration of the cone visual pigments
  • disrupting the cycling of vitamin A analogs between the photoreceptor cells and the adjacent retinal pigment epithelium
  • reduces dihydrotestosterone to androstanediol, and is thus also involved in steroid metabolism
  • potntial critical function is the reduction of all-trans-retinal that exceeds the reductive capacity of the photoreceptor outer segments
  • RDH12-but not RDH11-also protected against light-induced apoptosis of photoreceptors
  • with RDH11, can enzymatically reduce toxic lipid peroxidation products such as 4-hydroxynonenal (4-HNE)
  • by detoxifying stray retinal, RDH12 acts as a barrier against intracellular aldehyde diffusion
  • RDH12 function in the photoreceptor inner segments is key, because loss of function mutations cause retinal degeneration in some forms of Leber congenital amaurosis
  • can reduce all-trans-retinal that enters the inner segment from the outer segment or from the environment outside the cell
  • RDH12, RDH8, both enzymes are required to reduce all-trans-retinal generated after bleaching and present in both photoreceptor inner and outer segments
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism alcohol
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • NADH dependent activity
  • protein
    cell & other
    REGULATION
    inhibited by 2,2,2-trifluoroethanol and pyrazole
    ASSOCIATED DISORDERS
    corresponding disease(s) LCA13 , RP53
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    light-induced rapid decrease of RDH12 protein, preceding the decrease of the mRNA, suggested a specific degradation of the protein rather than a regulation of gene expression
    Susceptibility maybe corresponding to LCA3 disease
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS