Gene

fah

ID

ZDB-GENE-030131-1091

Name

fumarylacetoacetate hydrolase (fumarylacetoacetase)

Symbol

fah Nomenclature History

Previous Names

fb59b12
wu:fb59b12
zgc:55316 (1)

Type

protein_coding_gene

Location

Chr: 7 Mapping Details/Browsers

Description

Predicted to have fumarylacetoacetase activity. Predicted to be involved in L-phenylalanine catabolic process; homogentisate catabolic process; and tyrosine catabolic process. Human ortholog(s) of this gene implicated in tyrosinemia type I. Is expressed in epidermis; fin; head mesenchyme; liver; and pharyngeal arch 3-7 skeleton. Orthologous to human FAH (fumarylacetoacetate hydrolase).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

4 figures from Thisse et al., 2004

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

MGC:55316 (6 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With fah Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
tyrosinemia type I	Alliance	Tyrosinemia, type I	276700

Associated With fah Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR011234	Fumarylacetoacetase-like, C-terminal
Domain	IPR015377	Fumarylacetoacetase, N-terminal
Family	IPR005959	Fumarylacetoacetase
Homologous_superfamily	IPR036462	Fumarylacetoacetase, N-terminal domain superfamily
Homologous_superfamily	IPR036663	Fumarylacetoacetase-like, C-terminal domain superfamily