Literature summary for 1.13.11.5 extracted from

Hughes, J.H.; Liu, K.; Plagge, A.; Wilson, P.J.M.; Sutherland, H.; Norman, B.P.; Hughes, A.T.; Keenan, C.M.; Milan, A.M.; Sakai, T.; Ranganath, L.R.; Gallagher, J.A.; Bou-Gharios, G.
Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria (2019), Hum. Mol. Genet., 28, 3928-3939 .

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Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q93099	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining

General Information

General Information	Comment	Organism
malfunction	alkaptonuria is an inherited disease caused by homogentisate 1,2-dioxygenase deficiency	Homo sapiens

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Release 2023.1 (January 2023)