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FLASH GENE
Symbol ALDH1A3 contributors: mct - updated : 25-02-2011
HGNC name aldehyde dehydrogenase 1 family, member A3
HGNC id 409
PROTEIN
PHYSICAL PROPERTIES globular
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to murine Aldh1a3
ortholog to Drosophila CG3752
ortholog to C.elegans K04F1.15
intraspecies paralog to ALDH1A1
paralog to ALDH1A2
Homologene
FAMILY
  • aldehyde dehydrogenase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • detoxication of aldehydes generated by alcohol metabolism and lipid peroxidation
  • playing a role in the second step in ethanol utilization
  • its transcriptional activation is involved in regulation of the retinoic acid metabolism in the epidermis
  • required for the complete invagination of the ventral optic cup and closure of the choroid fissure
  • decreases potentially insulin secretion from pancreatic beta-cells, whereas it increases glucagon secretion from pancreatic alpha-cells
  • key enzyme in the formation of a retinoic acid gradient along the dorso-ventral axis during early eye development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism alcohol , lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NAD
    • protein
    cell & other
    REGULATION
    activated by all-trans-retinoic acid in primary keratinocytes
    ASSOCIATED DISORDERS
    corresponding disease(s) MCOP8
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in non small cell lung cancer (Moreb 2008)
    constitutional     --over  
    deregulates the balanced mechanisms of insulin and glucagon secretion in the pancreatic islets and may induce beta-cell dysfunction leading to the development of type 2 diabetes
    constitutional       loss of function
    causes anophthalmia and aberrant eye development
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • novel cancer stem cells marker with potential clinical prognostic applicability (clear correlation between cancer stem cells prevalence and the development of metastatic breast cancer)
    • Therapy target
    ANIMAL & CELL MODELS
  • Aldh1a3-/- mutant mice embryos begin the process of optic cup formation, but they exhibit ventral retina shortening associated with lens rotation and persistence of primary vitreous