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FLASH GENE
Symbol ALDH7A1 contributors: mct/npt - updated : 09-04-2008
HGNC name aldehyde dehydrogenase 7 family, member A1
HGNC id 877
Corresponding disease
EPD epilepsy, pyridoxine-dependent
Location 5q23.2      Physical location : 125.878.917 - 125.931.082
Synonym name
  • antiquitin 1
  • 26g turgor protein homolog
  • alpha-aminoadipic semialdehyde dehydrogenase
  • alpha-AASA dehydrogenase
  • delta1-piperideine-6-carboxylate dehydrogenease
  • P6c dehydrogenase
  • Synonym symbol(s) ATQ1, PDE, FLJ11738, FLJ92814
    EC.number 1.2.1.3
    DNA
    TYPE functioning gene
    STRUCTURE 52.16 kb     18 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 3566 - 539 - -
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Hearing/Equilibriumearinnercochlea highly
    Reproductivefemale systemovary   
     female systemuteruscervix highly
    Respiratoryrespiratory tractlarynx  highly
    Urinarykidney    
    Visualeye    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to green pea
    Homologene
    FAMILY
  • aldehyde dehydrogenase family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • hypothetical aldehyde dehydrogenase regulating osmotic pressure
  • playing a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation
  • degrades and detoxifies acetaldehyde generated by alcohol metabolism (Guo 2010)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EPD
    Susceptibility to low-trauma osteoporotic fractures (OF)
    Variant & Polymorphism SNP SNP, rs13182402 within the ALDH7A1 gene on chromosome 5q31, was strongly associated with OF (Guo 2010)
    Candidate gene potential candidate gene contributing to the risk of osteoporosis (Guo 2010)
    Marker
    Therapy target
    ANIMAL & CELL MODELS