MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001029

UniProt Annotations

Entry Information
Gene Namefumarylacetoacetate hydrolase (fumarylacetoacetase)
Protein EntryFAAA_HUMAN
UniProt IDP16930
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P16930-1; Sequence=Displayed; Name=2; IsoId=P16930-2; Sequence=VSP_055491; Note=No experimental confirmation available.;
Catalytic Activity4-fumarylacetoacetate + H(2)O = acetoacetate + fumarate. {ECO:0000250|UniProtKB:P35505}.
CofactorName=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence={ECO:0000250|UniProtKB:P35505};
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000250|UniProtKB:P35505};
DiseaseTyrosinemia 1 (TYRSN1) [MIM:276700]: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment. {ECO:0000269|PubMed:11196105, ECO:0000269|PubMed:11476670, ECO:0000269|PubMed:1401056, ECO:0000269|PubMed:20003495, ECO:0000269|PubMed:7550234, ECO:0000269|PubMed:7757089, ECO:0000269|PubMed:7942842, ECO:0000269|PubMed:7977370, ECO:0000269|PubMed:8005583, ECO:0000269|PubMed:8318997, ECO:0000269|PubMed:8364576, ECO:0000269|PubMed:8557261, ECO:0000269|PubMed:9633815}. Note=The disease is caused by mutations affecting the gene represented in this entry.
PathwayAmino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 6/6.
SimilarityBelongs to the FAH family. {ECO:0000305}.
SubunitHomodimer. {ECO:0000250|UniProtKB:P35505}.
Tissue SpecificityMainly expressed in liver and kidney. Lower levels are also detected in many other tissues.
  logo