Entrez gene ID | | 3081 |
Official gene symbol | | HGD |
Full name | | homogentisate 1,2-dioxygenase |
Aliases | | ,AKU,FLJ94126,HGO, |
Gene 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. |
Location | | Chromosome: 3 Locus: 3q13.33 |
Gene position | | 120401418 - 120347015 Map Viewer |
Gene orientation | | minus |
Gene size | | 54404 bp |
Gene sequence |
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OMIM ID | | 607474 |
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