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. Is expressed in epidermis; fin; head mesenchyme; liver; and pharyngeal arch 3-7 skeleton. Human ortholog(s) of this gene implicated in tyrosinemia type I. 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
Thisse Expression Data
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
Domain Details Per Protein
Protein Length Fumarylacetoacetase Fumarylacetoacetase-like, C-terminal Fumarylacetoacetase-like, C-terminal domain superfamily Fumarylacetoacetase, N-terminal Fumarylacetoacetase, N-terminal domain superfamily
UniProtKB:Q803S0 348
UniProtKB:A0A2R8Q7Q6 348
UniProtKB:A0A0R4IKT0 235
UniProtKB:B2GSC3 348
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations