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Literature summary extracted from

  • Granadino, B.; Beltran-Valero de Bernabe, D.; Fernandez-Canon, J.M.; Penalva, M.A.; Rodriguez de Cordoba, S.
    The human homogentisate 1,2-dioxygenase (HGO) gene (1997), Genomics, 43, 115-122.
    View publication on PubMed

Application

EC Number Application Comment Organism
1.13.11.5 medicine alkaptonuria: rare hereditary disorder of the phenylalanine catabolism, patients are deficient in homogentisate 1,2-dioxygenase and carry two copies of a loss-of-function allele of HGO gene, disease causes homogentisic aciduria, ochronosis and arthritis Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.13.11.5 HGO gene on chromosome 3 is cloned, completely sequenced and characterized, identification of its promoter region, transcriptional control of the gene Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.13.11.5 additional information alkaptonuric humans are deficient for homogentisate 1,2-dioxygenase and carry two copies of a loss-of-function allele of HGO gene Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
1.13.11.5 Homo sapiens Q93099
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.13.11.5 colon
-
 Homo sapiens
-
1.13.11.5 kidney
-
 Homo sapiens
-
1.13.11.5 liver
-
 Homo sapiens
-
1.13.11.5 prostate gland
-
 Homo sapiens
-
1.13.11.5 small intestine
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.13.11.5 homogentisate + O2
-
 Homo sapiens 4-maleylacetoacetate
-
 ?