Hgd
Function
Catalyzes the conversion of homogentisate to maleylacetoacetate.
Involvement in disease
Defects in Hgd are the cause of alkaptonuria (aku). Aku is an autosomal recessive error of metabolism which is characterized by an increase in the level of homogentisic acid.
Pathway
Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 4/6.
Sequence Similarities
Belongs to the homogentisate dioxygenase family.
Alternative names
Aku, Hgo, Hgd, Homogentisate oxygenase, Homogentisic acid oxidase, Homogentisicase