Name

FAH Gene

fumarylacetoacetate hydrolase (fumarylacetoacetase)

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, Mar 2025]

Fumarylacetoacetase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Fumarylacetoacetase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

fumarylacetoacetase activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the fumarylacetoacetase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

Fumarylacetoacetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Fumarylacetoacetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

fumarylacetoacetase activity Gene Set

From GO Molecular Function Annotations 2023

genes performing the fumarylacetoacetase activity molecular function from the curated GO Molecular Function Annotations 2023 dataset.

fumarylacetoacetase activity Gene Set

From GO Molecular Function Annotations 2025

genes performing the fumarylacetoacetase activity molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Fumarylacetoacetase pseudodeficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Fumarylacetoacetase pseudodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.