Literature summary extracted from

Grasko, J.M.; Hooper, A.J.; Brown, J.W.; McKnight, C.J.; Burnett, J.R.
A novel missense HGD gene mutation, K57N, in a patient with alkaptonuria (2009), Clin. Chim. Acta, 403, 254-256.

Application

EC Number	Application	Comment	Organism
1.13.11.5	medicine	missense mutation in exon 13 (G360R) and exon 3 (K57N) affecting homogentisate 1,2-dioxygenase function by interfering with substrate traffic at active site causing alkaptonuria, a rare recessive phanylalanine/tyrosine metabolism disorder	Homo sapiens

Cloned(Commentary)

EC Number	Cloned (Comment)	Organism
1.13.11.5	PCR of coding region of DNA extracted from EDTA blood sample	Homo sapiens

Protein Variants

EC Number	Protein Variants	Comment	Organism
1.13.11.5	G360R	active site mutation in exon 13	Homo sapiens
1.13.11.5	K57N	active site mutation in exon 3	Homo sapiens

Natural Substrates/ Products (Substrates)

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

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	leukocyte	-	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	-	?

Synonyms

EC Number	Synonyms	Comment	Organism
1.13.11.5	HgD	-	Homo sapiens
1.13.11.5	homogentisate 1,2-dioxygenase	-	Homo sapiens

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Release 2023.1 (January 2023)