It contains an element in the C-terminal region referred to as a "gatekeeper" helix, which is adjacent to the membrane-anchored transmembrane domain and the catalytic core.
The encoded enzyme is responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid.
ALD3H2 is expressed in the human liver and has been found to localize the microsome fraction inside the cell.
The alternative transcript differs by an additional exon and anchors differently to the endoplasmic reticulum vs. the peroxisome [8] Mutations and deletions within the ALDH3A2 gene have been widely associated with the autosomal recessive Sjögren-Larsson syndrome, an autosomal recessive neurocutaneous disease.
[9] Multiple mutations have been found in different families, including those that molecularly disrupts the protein dimerization interface or reduces mRNA stability.