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FLASH GENE
Symbol RDH10 contributors: mct/pgu - updated : 25-10-2012
HGNC name retinol dehydrogenase 10 (all-trans)
HGNC id 19975
DNA
TYPE functioning gene
STRUCTURE 30.68 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence
text structure a unique transcriptional start site, and a 3' untranslated region containing at least two used polyadenylation sites
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 3981 - 341 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Visualeyeretina    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier liningretinal pigment epithelium (RPE)   Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
VisualMuller cell Homo sapiens
Visualrod photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • short chain alcohol dehydrogenase/reductase
  • the size of the AA at position 197 is critical for the activity of RDH10
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    text expressed in the microsomal fraction of the RPE
    basic FUNCTION
  • generating all-trans retinal from all-trans retinol
  • playing an important role in the photic visual cycle
  • first oxidative step of Vitamin A metabolism, which is catalyzed in large part by the retinol dehydrogenase RDH10, is critical for the spatiotemporal synthesis of RA
  • essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development
  • essential for generating retinoic acid at early embryonic stages
  • primary RDH responsible for the first step of embryonic Vitamin A oxidation
  • major contributor to retinal biosynthesis during mid-gestation
  • plays a critical role in mediating the rate limiting retinol dehydrogenase step of Vitamin A metabolism and functions as a nodal point in feedback regulation of RA synthesis
  • RDH10-mediated oxidation of retinol plays as important a role in the control and regulation of RA production during embryogenesis as does the subsequent RALDH-mediated reaction
  • RDH10 and ALDH1A2 are critical for RA biosynthesis in the embryo
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism vitamin
    signaling sensory transduction/vision
    all-trans retinol metabolism
    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
  • RDH10(trex) mutant protein lacks the ability to oxidize retinol to retinal, resulting in insufficient RA signaling
  • severity of the Rdh10 null phenotype demonstrates that embryonic oxidation of retinol is carried out primarily by Rdh10 and that neither ADHs nor other enzymes contribute significantly to this reaction
  • deficiency of Rdh10 in both Sertoli and germ cells in juvenile mice results in a blockage of spermatogonial differentiation, similar to that seen in vitamin A-deficient animals
  • adult Rdh10-deficient mice exhibit phenotypically normal spermatogenesis, indicating that during development a change occurs in either the cellular source of RA or the retinaldehyde dehydrogenase involved in RA synthesis