Gene Symbol | HGD |
Entrez Gene ID | 3081 |
Full Name | homogentisate 1,2-dioxygenase |
Synonyms | AKU,HGO |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Alkaptonuria, 203500 (3) |