FAH Gene Summary [Human]
Predicted to enable fumarylacetoacetase activity. Predicted to be involved in L-phenylalanine catabolic process; homogentisate catabolic process; and tyrosine catabolic process. Predicted to act upstream of or within arginine catabolic process. Located in extracellular exosome. Implicated in tyrosinemia type I. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | FAH |
| Official Name | fumarylacetoacetate hydrolase [Source:HGNC Symbol;Acc:HGNC:3579] |
| Ensembl ID | ENSG00000103876 |
| Bio databases IDs | |
| Aliases | fumarylacetoacetate hydrolase, fumarylacetoacetase |
| Synonyms | fumarylacetoacetase, fumarylacetoacetate hydrolase, swst |
| 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 FAH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Fumarylacetoacetase N-terminal
- fumarylacetoacetase
- enzyme
- protein binding
- Fumarylacetoacetate (FAA) hydrolase family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- liver cancer
- adenoma formation
- liver neoplasia
- epithelial neoplasia
- benign neoplasia
- digestive system cancer
- abdominal cancer
- cancer
- epithelial cancer
- tyrosinemia type I
regulates
- creatinine
- bilirubin
- GOT
- L-tyrosine
- KITLG
- amino acids
- arginine
role in cell
- proliferation
- apoptosis
- abnormal morphology
- number
- function
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
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FAH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- arginine catabolic process
- L-phenylalanine catabolic process
- lipid metabolic 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
- protein binding
- metal ion binding
- fumarylacetoacetase activity