Fumarylacetoacetate hydrolase

FAH
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1HYO, 1QCN, 1QCO, 1QQJ, 2HZY
Identifiers
Aliases	FAH, Fumarylacetoacetase, fumarylacetoacetate hydrolase
External IDs	MGI: 95482 HomoloGene: 110 GeneCards: FAH
Gene ontology Molecular function • fumarylacetoacetase activity • protein binding • catalytic activity • hydrolase activity • metal ion binding Cellular component • cytosol • extracellular exosome Biological process • aromatic amino acid family metabolic process • metabolic process • L-phenylalanine catabolic process • arginine catabolic process • tyrosine catabolic process Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2184	14085
Ensembl	ENSG00000103876	ENSMUSG00000030630
UniProt	P16930	P35505
RefSeq (mRNA)	NM_000137	NM_010176
RefSeq (protein)	NP_000128	NP_034306
Location (UCSC)	Chr 15: 80.15 – 80.19 Mb	Chr 7: 84.59 – 84.61 Mb
PubMed search

1HYO, 1QCN, 1QCO, 1QQJ, 2HZY

2184

14085

ENSG00000103876

ENSMUSG00000030630

P16930

P35505

NM_000137

NM_010176

NP_000128

NP_034306

Fumarylacetoacetase is an enzyme that in humans is encoded by the FAH gene located on chromosome 15. The FAH gene is thought to be involved in the catabolism of the amino acid phenylalanine in human.

The FAH gene is located on the chromosome 15q25.1 region and contains 14 exons. It encodes a protein that is 46kDa in height. Multiple isoforms of the protein have been discovered that arose from alternative splicing. The gene is mainly expressed in the liver and the kidney.

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Wikipedia