Literature summary for 1.13.11.5 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.

Search for more literature for 1.13.11.5

Application

Application	Comment	Organism
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)

Cloned (Comment)	Organism
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

Protein Variants	Comment	Organism
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

Organism	UniProt	Comment	Textmining
Homo sapiens	Q93099	-	-

Source Tissue

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

Substrates and Products (Substrate)

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

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Release 2023.1 (January 2023)