1.2.1.48 evolution FALDH belongs to the superfamily of ALDHs, which are homooligomeric enzymes characterized by the presence of a cofactor-binding domain, a catalytic domain and a bridging domain involved in oligomerization. The C-terminal gatekeeper feature is conserved across membrane-associated aldehyde dehydrogenases 743336 1.2.1.48 evolution the enzyme is a member of the ALDH3 family 741853 1.2.1.48 malfunction ALDH3B1 does not cause further impairment of the sphingolipid metabolism in the ALDH3A2-deficient cells 724462 1.2.1.48 malfunction deficiency in fatty aldehyde dehydrogenase causes the Sjogren Larsson Syndrome, a rare inherited disorder characterized by ichthyosis, spasticity, and mental retardation 725656 1.2.1.48 malfunction mutations in the gene coding for membrane-bound fatty aldehyde dehydrogenase (FALDH) lead to toxic accumulation of lipid species and development of the Sjoegren-Larsson Syndrome (SLS), a rare disorder characterized by skin defects and mental retardation. Impaired FALDH function alters the metabolic profiles of connected pathways, molecular mechanism of SLS-causing mutations, overview 743336 1.2.1.48 metabolism the enzyme is involved in the first oxidation reaction of the phytosphingosine degradation pathway 763641 1.2.1.48 metabolism the enzyme is not involved in the long-chain base metabolism 724462 1.2.1.48 additional information the dimeric FALDH displays a an 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 for efficient substrate transit between membranes and catalytic site. The gatekeeper helix is important for directing the substrate specificity of FALDH towards long-chain fatty aldehydes. Cys241 is the catalytic cysteine in the human enzyme 743336 1.2.1.48 physiological function ALDH3 family members (ALDH3A1, ALDH3A2, ALDH3B1, ALDH3B2 and ALDH3B3) are responsible for the removal of lipid-derived aldehydes 741853 1.2.1.48 physiological function ALDH3 family members (ALDH3A1, ALDH3A2, ALDH3B1, ALDH3B2 and ALDH3B3) are responsible for the removal of lipid-derived aldehydes. Isozyme ALDH3B2 probably acts to remove lipid-derived aldehydes in lipid droplets generated via oxidative stress as a quality control mechanism 741853