 ALD3H2 is expressed in the human liver and has been found to localize the microsome fraction inside the cell.At least two alternative splicing isoforms of ALDH3A2 are known to exist.The alternative transcript differs by an additional exon and anchors differently to the endoplasmic reticulum vs. the peroxisome 

Mutations and deletions of in the ALDH3A2 gene have been widely associated with the autosomal recessive Sjögren-Larsson syndrome, an autosomal recessive neurocutaneous disease.