HGD
Function
Catalyzes the conversion of homogentisate to maleylacetoacetate.
Involvement in disease
Alkaptonuria
AKU
An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 4/6.
Sequence Similarities
Belongs to the homogentisate dioxygenase family.
Tissue Specificity
Highest expression in the prostate, small intestine, colon, kidney and liver.
Alternative names
HGO, HGD, Homogentisate oxygenase, Homogentisic acid oxidase, Homogentisicase