Gene: FAH

Alternate names for this Gene: -

Gene Summary: This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT).

Gene is located in Chromosome: 15

Location in Chromosome : 15q25.1

Description of this Gene: fumarylacetoacetate hydrolase

Type of Gene: protein-coding

rs11555096 in FAH gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs1057516679 in FAH gene and Tyrosinemia, Type I PMID 23225041 2012 [Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I].

PMID 22554029 2012 Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.

PMID 24016420 2013 Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.

PMID 16521249 2005 Gene symbol: FAH. Disease: tyrosinaemia 1.

PMID 22802474 2010 Persistent coagulopathy during Escherichia coli sepsis in a previously healthy infant revealed undiagnosed tyrosinaemia type 1.

PMID 7977370 1994 Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

PMID 11196105 2000 Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.

PMID 7757089 1995 Two novel mutations involved in hereditary tyrosinemia type I.

PMID 20003495 2009 A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.

PMID 1401056 1992 Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

PMID 7550234 1995 Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.

PMID 8557261 1996 Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.

PMID 11476670 2001 A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

PMID 9633815 1998 Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.

PMID 8364576 1993 Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.

PMID 11278491 2001 Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

PMID 8318997 1993 Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.

PMID 8005583 1994 Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.

PMID 7942842 1994 Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.

PMID 8829657 1996 Fumarylacetoacetase mutations in tyrosinaemia type I.

PMID 10508789 1999 Crystal structure and mechanism of a carbon-carbon bond hydrolase.

PMID 15638932 2005 A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay.

PMID 7929843 1994 Self-induced correction of the genetic defect in tyrosinemia type I.

PMID 22975760 2013 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

PMID 8028615 1994 A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.

PMID 25681080 2015 Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.

PMID 9101289 1997 Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.

PMID 8076937 1994 Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.

PMID 23895425 2014 Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.

PMID 21117323 2010 [Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I].

PMID 21752152 2011 Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome.

PMID 21764616 2011 Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.

PMID 12203990 2002 Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.

PMID 7550234 1995 Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.

PMID 23430822 2011 Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease.

PMID 12555948 2002 Mutation screening for tyrosinaemia type I.

PMID 8723690 1996 Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.

PMID 14691918 2003 Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia.

PMID 26565546 2016 Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.

PMID 23193487 2012 Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.

PMID 22002443 2012 Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 - a hypothesis.

PMID 23348723 2013 Prediction of mutant mRNA splice isoforms by information theory-based exon definition.

PMID 23430836 2011 Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.

PMID 25256450 2015 Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?

PMID 24555242 2013 The fate of tyrosinaemic Hungarian patients before the NTBC aera.

PMID 25081276 2014 Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

PMID 11754109 2002 Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.

PMID 15187789 2004 N-acetyl tyrosyluria caused by parenteral or enteral administration of N-acetyl-L-tyrosine: differentiation from hereditary and acquired tyrosinemias.

PMID 15465000 2004 To understand the possible impact of NMD on the pathogenesis of hereditary tyrosinemia type I, a severe metabolic disease caused by fumarylacetoacetate hydrolase (FAH) deficiency, we examined the metabolism of FAH mRNA harboring a nonsense mutation, W262X, in lymphoblastoid cell lines derived from patients and their parents.

PMID 8723698 1996 Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation.

PMID 8162054 1994 Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.

PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

PMID 24756054 2014 Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1.

PMID 28755192 2017 Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.

PMID 8821854 1996 Frequency of the IVS12 + 5G-->A splice mutation of the fumarylacetoacetate hydrolase gene in carriers of hereditary tyrosinaemia in the French Canadian population of Saguenay-Lac-St-Jean.

PMID 27814443 2016 Type 1 Tyrosinaemia.

PMID 23927806 2013 [Mutation analysis of FAH gene in patients with tyrosinemia type 1].