| Primary Identifier | IPR046452 | Type | Domain |
| Short Name | HgmA_N |
| 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. This entry represents the N-terminal domain of HGD, which forms a jelly roll of β-strands []. |
