Sequence Detail

ID/Version

P35505 Q3TY87 Q9QW65 (UniProt | EBI)

Last sequence update: 2011-07-27
Last annotation update: 2024-11-27

Sequence description from provider

RecName: Full=Fumarylacetoacetase; Short=FAA; EC=3.7.1.2 {ECO:0000269|PubMed:11154690, ECO:0000269|PubMed:11209059};AltName: Full=Beta-diketonase;AltName: Full=Fumarylacetoacetate hydrolase;

Provider

SWISS-PROT

Sequence

Polypeptide 419 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Fah	fumarylacetoacetate hydrolase	12	100	3	20

Sequence references in MGI

J:1836 Ruppert S, et al., Deficiency of an enzyme of tyrosine metabolism underlies altered gene expression in newborn liver of lethal albino mice. Genes Dev. 1992 Aug;6(8):1430-43
J:2852 Grompe M, et al., Nucleotide sequence of a cDNA encoding murine fumarylacetoacetate hydrolase. Biochem Med Metab Biol. 1992 Aug;48(1):26-31
J:2947 Klebig ML, et al., Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locus. Proc Natl Acad Sci U S A. 1992 Feb 15;89(4):1363-7
J:67045 Aponte JL, et al., Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1. Proc Natl Acad Sci U S A. 2001 Jan 16;98(2):641-5
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89