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HGD

Official Full Name
homogentisate 1,2-dioxygenase
Organism
Homo sapiens
GeneID
3081
Background
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.[provided by RefSeq, May 2010]
Synonyms
AKU; HGO;

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