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This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.
aku; alkaptonuria; HGD; HGO; homogentisate 1, 2-dioxygenase; homogentisate 1,2-dioxygenase; homogentisate oxidase; homogentisate oxygenase; Homogentisic acid oxidase; homogentisicase
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