HAO1

Description

The HAO1 (hydroxyacid oxidase 1) is a protein-coding gene located on chromosome 20.

Hydroxyacid oxidase (glycolate oxidase) 1 is a protein encoded by the HAO1 gene in humans. This gene is one of three related genes with 2-hydroxyacid oxidase activity, differing in encoded protein amino acid sequence, tissue expression, and substrate preference. The protein is located in the peroxisome and is primarily expressed in the liver and pancreas. It is most active on glycolate, a two-carbon substrate, oxidizing glycolic acid to glyoxylate and can also oxidize glyoxylate into oxalate. These reactions are central to the toxicity of ethylene glycol poisoning. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in the pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site.

HAO1 is a broad substrate specificity (S)-2-hydroxy-acid oxidase that preferentially oxidizes glycolate. The glyoxylate produced by the oxidation of glycolate can then be utilized by alanine-glyoxylate aminotransferase for the peroxisomal synthesis of glycine. This pathway appears to be an important step for the detoxification of glyoxylate which, if allowed to accumulate, may be metabolized to oxalate with formation of kidney stones. HAO1 can also catalyze the oxidation of glyoxylate, and long chain hydroxyacids such as 2-hydroxyhexadecanoate and 2-hydroxyoctanoate, albeit with much lower catalytic efficiency. HAO1 is active in vitro with the artificial electron acceptor 2,6-dichlorophenolindophenol (DCIP), but O2 is believed to be the physiological electron acceptor, leading to the production of H2O2. HAO1 is not active on L-lactate and 2-hydroxybutanoate.

HAO1 is also known as GO, GOX, GOX1, HAOX1.

Associated Diseases

WES Whole Exome Sequencing