Meta-Biol

• Pathways

Fatty aldehyde dehydrogenase family 3 member A2, isoform 1 (ALDH3A2-1) in the endoplasmic reticulum membrane can catalyse the oxidation of long-chain aliphatic aldehydes to fatty acids (Kelson et al. 1997; Rizzo et al. 2001). Structural studies suggest that the enzyme is a homodimer (Keller et al. 2010), and expression studies of the homologous mouse proteins in cultured cells indicate that ALDH3A2 isoform 1 to the endoplasmic reticulum while isoform 2 is localized to peroxisomes (Ashibe et al. 2007). The sphingosine 1-phosphate (S1P) degradation product hexadec-2-enal (HD2NAL) can be oxidised to hexadecenoic acid (palmitic acid, PALM) (Nakahara et al. 2012). Defective ALDH3A2 results in Sjoegren-Larsson syndrome (SLS; MIM:270200), a neurocutaneous disorder characterised by a combination of severe mental retardation, spastic di- or tetraplegia and congenital ichthyosis. Accumulation of the S1P metabolite HD2NAL contributes to the pathogenesis of SLS (De Laurenzi et al. 1996, Sillen et al. 1998).