Hydroxyacid Oxidase 1 (HAO1)

HAO1 is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site.The full-length cDNA of Hao1 encodes a deduced 370-amino acid protein with a predicted molecular mass of 4.1 kD. The Hao1 protein contains an IRE-like sequence in the 3-prime untranslated region, with one mismatch in the predicted upper stem structure.