Aliases for HGD Gene
External Ids for HGD Gene
Previous HGNC Symbols for HGD Gene
Previous GeneCards Identifiers for HGD Gene
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]
GeneCards Summary for HGD Gene
HGD (Homogentisate 1,2-Dioxygenase) is a Protein Coding gene. Diseases associated with HGD include Alkaptonuria and Ochronosis. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Metabolism. GO annotations related to this gene include homogentisate 1,2-dioxygenase activity.