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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for HGD (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID3081
Official gene symbolHGD
Full namehomogentisate 1,2-dioxygenase
Aliases,AKU,FLJ94126,HGO,
Gene summaryThis 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.
LocationChromosome: 3   Locus: 3q13.33
Gene position120401418 - 120347015  Map Viewer
Gene orientationminus
Gene size54404 bp
Gene sequence
OMIM ID607474