FAH fumarylacetoacetate hydrolase [Homo sapiens (human)] - Gene

Summary

Official Symbol: FAHprovided by HGNC
Official Full Name: fumarylacetoacetate hydrolaseprovided by HGNC
Primary source: HGNC:HGNC:3579
See related: Ensembl:ENSG00000103876 MIM:613871; AllianceGenome:HGNC:3579
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable fumarylacetoacetase activity. Predicted to be involved in L-phenylalanine catabolic process; homogentisate catabolic process; and tyrosine catabolic process. Predicted to act upstream of or within arginine catabolic process. Located in extracellular exosome. Implicated in tyrosinemia type I. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in liver (RPKM 62.1), fat (RPKM 60.9) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q25.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (80152789..80186949)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (78016209..78050378)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (80445131..80479291)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).
Title: The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).
Fumarylacetoacetate hydrolase gene as a knockout target for hepatic chimerism and donor liver production.
Title: Fumarylacetoacetate hydrolase gene as a knockout target for hepatic chimerism and donor liver production.
Survival-Assured Liver Injury Preconditioning (SALIC) Enables Robust Expansion of Human Hepatocytes in Fah(-/-) Rag2(-/-) IL2rg(-/-) Rats.
Title: Survival-Assured Liver Injury Preconditioning (SALIC) Enables Robust Expansion of Human Hepatocytes in Fah(-/-) Rag2(-/-) IL2rg(-/-) Rats.
Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected in Pakistani Cohorts.
Title: Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected in Pakistani Cohorts.
Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I.
Title: Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I.
E3 Ubiquitin Ligase APC/C(Cdh1) Negatively Regulates FAH Protein Stability by Promoting Its Polyubiquitination.
Title: E3 Ubiquitin Ligase APC/C(Cdh1) Negatively Regulates FAH Protein Stability by Promoting Its Polyubiquitination.
A liver-humanized mouse model of carbamoyl phosphate synthetase 1-deficiency.
Title: A liver-humanized mouse model of carbamoyl phosphate synthetase 1-deficiency.
We identified pathogenic variants in 15/16 studied alleles (93.8%). Nine different variants were found. The most commonly detected HT1-causing allele was NM_000137.2(FAH):c.3G > A or p.(?) [rs766882348] (25%, n = 4/16). We also identified a novel missense variant NM_000137.2(FAH):c.36C > A or p.(Phe12Leu) in a homozygous patient with an early and fatal acute form.
Title: Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.
Altogether these findings elucidate the molecular basis of HT1 caused by the frequent FAH c.1062+5G>A mutation, and demonstrate the compensatory effect of the c.1061C>A change in promoting exon definition, thus unraveling a rare mechanism leading to FAH immune-reactive mosaicism.
Title: The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.
molecular aspects of the FAH gene and its corresponding protein and a complete listing of all the mutations identified to date; highlight of the importance of splicing mutations in hereditary tyrosinemia type 1
Title: Molecular Aspects of the FAH Mutations Involved in HT1 Disease.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Tyrosinemia type I MedGen: C0268490 OMIM: 276700 GeneReviews: Tyrosinemia Type I	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH13 (e-PCR)
- UniSTS:65318

RH77779 (e-PCR)
- UniSTS:30775

GDB:512183 (e-PCR)
- UniSTS:157519

GDB:512186 (e-PCR)
- UniSTS:157520

GDB:512189 (e-PCR)
- UniSTS:157521

GDB:369113 (e-PCR)
- UniSTS:156824

GDB:369116 (e-PCR)
- UniSTS:156825

GDB:370745 (e-PCR)
- UniSTS:156826

RH136637 (e-PCR)
- UniSTS:209645

STS-AA010559 (e-PCR)
- UniSTS:68607

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fumarylacetoacetase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in L-phenylalanine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-phenylalanine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in arginine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in homogentisate catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in tyrosine catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed

General protein information

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Preferred Names: fumarylacetoacetase

Names: FAA; beta-diketonase; epididymis secretory sperm binding protein; fumarylacetoacetate hydrolase (fumarylacetoacetase)

NP_000128.1

EC 3.7.1.2

NP_001361306.1

EC 3.7.1.2

NP_001361309.1

EC 3.7.1.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.