F
IPR005708

Homogentisate 1,2-dioxygenase

InterPro entry
Short nameHomogentis_dOase
Overlapping
homologous
superfamilies
 
family relationships

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) (
1.13.11.5
), 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
[1, 2]
.

This group of proteins includes human HDG and homologues from eukaryotes, bacteria and some archaeal species.

References

1.The molecular basis of alkaptonuria. Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, Renedo M, Fernandez-Ruiz E, Penalva MA, Rodriguez de Cordoba S. Nat Genet 14, 19-24, (1996). PMID: 8782815

2.Crystal structure of human homogentisate dioxygenase. Titus GP, Mueller HA, Burgner J, Rodriguez De Cordoba S, Penalva MA, Timm DE. Nat. Struct. Biol. 7, 542-6, (2000). View articlePMID: 10876237

GO terms

Cross References

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