Hydroxyacid oxidase (glycolate oxidase) 1

Hydroxyacid oxidase (glycolate oxidase) 1 is an enzyme that in humans is encoded by the HAO1 gene. This enzyme belongs to the family of oxidoreductases, specifically those acting on the CH-OH group of donor with oxygen as acceptor. The systematic name of this enzyme class is glycolate:oxygen 2-oxidoreductase. Other names in common use include glycolic acid oxidase, and hydroxy-acid oxidase 1.

Function

The protein encoded by this gene is a peroxisomal enzyme that catalyzes the conversion of glycolate to glyoxylate, thereby facilitating the formation of amino acids from glyoxylate. This enzyme is one of several oxidases located in the peroxisome, a cell organelle involved in lipid metabolism.

Clinical significance

Mutations in the HAO1 gene are associated with Primary hyperoxaluria type III. Primary hyperoxaluria is a rare disorder that results in the overproduction of a substance called oxalate. While oxalate is normally eliminated in urine, in primary hyperoxaluria, the kidneys are unable to eliminate the large amounts of oxalate, leading to kidney and bladder stones.

Structure

The HAO1 gene is located on the long (q) arm of chromosome 20 at position 11.2. The gene spans 23,879 base pairs and is composed of 6 exons. The encoded protein is 347 amino acids long with a predicted molecular weight of 39.4 kDa.

See also

• Oxidoreductase
• Peroxisome
• Primary hyperoxaluria