The HGD gene provides instructions for making an enzyme called homogentisate 1,2-dioxygenase, which is active mainly in the liver and kidneys. This enzyme participates in a multi step process that breaks down two protein building blocks (amino acids), phenylalanine and tyrosine. They get broken down when they are no longer needed or when there are too many of them. These two amino acids also play a role in making certain brain chemicals (neurotransmitters), hormones, and pigments.
Homogentisate 1,2-dioxygenase is responsible for a specific step in the breakdown of phenylalanine and tyrosine. Previous steps convert the two amino acids into a molecule called homogentisic acid. Homogentisate 1,2-dioxygenase adds two oxygen atoms to homogentisic acid, converting it to another molecule called maleylacetoacetate. Other enzymes break down maleylacetoacetate into smaller molecules that are later used for energy or to make other products that can be used by the body.
Other Names
AKU; HGD_HUMAN; HGO; homogentisate 1,2-dioxygenase (homogentisate oxidase); Homogentisic acid oxidase; homogentisicase
Related Genetics Topics
Identifiers
- NCBI Gene: 3081
- OMIM: 607474
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
