Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ALDH3A2 contributors: mct - updated : 13-07-2016
HGNC name aldehyde dehydrogenase 3 family, member A2
HGNC id 403
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