HGD Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | HGD |
| Official Name | homogentisate 1,2-dioxygenase [Source:HGNC Symbol;Acc:HGNC:4892] |
| Ensembl ID | ENSG00000113924 |
| Bio databases IDs | |
| Aliases | homogentisate 1,2-dioxygenase, homogentisate oxidase |
| Synonyms | AKU, Alcaptonuria, HGO, homogentisate 1, 2-dioxygenase, LOC727722 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HGD often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Homogentisate 1,2-dioxygenase N-terminal
- enzyme
- protein binding
- identical protein binding
- RmlC-like cupin superfamily
- Homogentisate 1,2-dioxygenase C-terminal
- homogentisate 1,2-dioxygenase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HGD gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- L-phenylalanine catabolic process
- tyrosine catabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytosol
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- metal ion binding
- homogentisate 1,2-dioxygenase activity