Protein Domain : Homogentisate 1,2-dioxygenase IPR005708

Type	Family
Description	Alkaptonuria (AKU), a rare hereditary disorder, was the first disease to be interpreted as an inborn error of metabolism. The deficiency causes homogentisic aciduria, ochronosis, and arthritis. AKU patients are deficient for homogentisate 1,2 dioxygenase (HGD) ( ), the enzyme that mediates the conversion of homogentisate to maleylacetoacetate, a step in the catabolism of both tyrosine and phenylalanine. The structure of this protein shows that the enzyme forms a hexamer arrangement comprised of a dimer of trimers. The active site iron ion is coordinated near the interface between the trimers [ , ].This group of proteins includes human HDG and homologues from eukaryotes, bacteria and some archaeal species.
Short Name	Homogentis_dOase