Aldehyde Oxidase 1 (AOX1)

Aldehyde oxidase (AO) produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. The human protein was 49% identical to rat XDH and contained several characteristic XDH signature sequences. AOX1 was expressed as a 5.1-kb mRNA predominantly in liver. A 4.5-kb transcript observed in heart, brain, and kidney arose by use of an alternative polyadenylation site.Analysis of a YAC contig revealed that the AOX1 gene is within 280 kb of the D2S116 marker, which is inseparable by recombination from the ALS2 locus. AOX1 is expressed in the ventral horn of the spinal cord, primarily in the glial cells. Based on the tissue localization, linkage data, and the biochemical role of AOX1 in the free radical pathway, these authors suggested that AOX1 is a candidate gene for ALS2.