HGD, Official Symbol HGDprovided by HGNC Official Full Name homogentisate 1,2-dioxygenaseprovided by HGNC Primary source HGNC:HGNC:4892 See related Ensembl:ENSG00000113924 MIM:607474; AllianceGenome:HGNC:4892 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AKU; HGO Summary 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] Expression Biased expression in liver (RPKM 82.5), kidney (RPKM 39.4) and 7 other tissues See more Orthologs mouse all