Homogentisate-1,2-Dioxygenase (HGD)

AKU; HGO; Homogentisic Acid Oxidase; Homogentisicase; Homogentisate oxygenase

SPN	S535
HGNC	4892
MGI	96078
PubMed	9244427
RGD	1308757
UniProt	Q93099
Wiki	HGD

Homogentisate 1,2-dioxygenase an enzyme, which catalyzes the conversion of homogentisate to 4-maleylacetoacetate. Homogentisate 1,2-dioxygenase or HGD is involved in the catabolism of aromatic rings, more specifically in the breakdown of the amino acids tyrosine and phenylalanine.HGD appears in the metabolic pathway of tyrosine and phenylalanine degradation once the molecule homogentisate is produced. Homogentisate reacts with HGD to produce maleylacetoacetate, which then is further used in the metabolic pathway. HGD requires the use of Fe²⁺ and O₂ in order to cleave the aromatic ring of homogentisate. The active site of Homogentisate 1,2-dioxygenase was determined through the crystal structure, which was captured through the work of Titus et al.

Reference

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"Identification of 11 novel homogentisate 1,2 dioxygenase variants in alkaptonuria patients and establishment of a novel LOVD-based HGD mutation database."
JIMD Rep. 4:55-65(2012) [PubMed] [Europe PMC] [Abstract]

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"Analysis of HGD gene mutations in patients with alkaptonuria from the United Kingdom: identification of novel mutations."
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