Literature summary for 1.13.11.5 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.

Search for more literature for 1.13.11.5

Application

Application	Comment	Organism
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)

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

Protein Variants

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

Natural Substrates/ Products (Substrates)

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q93099	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
leukocyte	-	Homo sapiens	-

Substrates and Products (Substrate)

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

Synonyms

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

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Release 2023.1 (January 2023)