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FLASH GENE
Symbol ALDH3A2 contributors: mct - updated : 13-07-2016
HGNC name aldehyde dehydrogenase 3 family, member A2
HGNC id 403
DNA
TYPE functioning gene
STRUCTURE 29.46 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
regionally located between SMS-REPM and SMS-REPP
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 3823 - 508 - 2012 22633490
10 - 3702 54 485 - 2012 22633490
  • lacks an alternate segment in the 3' coding region, has a shorter C-terminus
    		•
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveesophagus   highly
     mouthtongue  highly
    Endocrinepancreas    
    Respiratoryrespiratory tracttrachea  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES globular Hydrophobic
    STRUCTURE
    motifs/domains
  • hydrophobic C terminal sequence necessary for microsomal membrane anchoring, and a previously unrecognized element in its C-terminal region, a 'gatekeeper' helix, which extends over the adjacent subunit, controlling the access to the substrate cavity and helping orientate both substrate cavities towards the membrane surface
    • HOMOLOGY
    interspecies homolog to murine Aldh3a2
    homolog to yeast Hfd1
    Homologene
    FAMILY
  • aldehyde dehydrogenase, class III (fatty alcohol oxidoreductase) family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    intracellular,nucleus
    basic FUNCTION
  • catalyzing the oxidation of medium-chain (fatty) aliphatic and aromatic aldehydes to fatty acids
  • detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation
  • fatty aldehyde dehydrogenase (FALDH)that exhibits activity toward saturated and unsaturated aliphatic aldehydes of 6–24 carbons in length
  • is the FALDH active within the S1P metabolic pathway
  • ALDH3A2 are responsible for conversion of the S1P degradation product hexadecenal to hexadecenoic acid
  • functions to oxidize fatty alcohols as a component of the fatty alcohol:NAD oxidoreductase (FAO) enzyme complex
  • is a ubiquitous enzyme involved in lipid detoxification
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SLS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in patients >40 years, and Granulosa-Lutein cell ALDH3A2 expression levels correlate with age, cause of infertility, and ovarian response to stimulation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Aldh3a2(-/-) mice replicated some aspects of SLS symptoms, especially at the basal layer of the epidermis