Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FAH Gene

protein-coding GIFtS: 65
GCID: GC15P080445

fumarylacetoacetate hydrolase (fumarylacetoacetase)

Explore 16 diseases affiliated with
FAH via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Fumarylacetoacetate Hydrolase (Fumarylacetoacetase)¹ ²		Fumarylacetoacetase¹
FAA² ³		Beta-Diketonase¹
EC 3.7.1.2³ ⁸		Fumarylacetoacetate Hydrolase³
Beta-Diketonase¹

External Ids:	HGNC: 3579¹	Entrez Gene: 2184²	Ensembl: ENSG00000103876⁷	OMIM: 613871⁵	UniProtKB: P16930³

Export aliases for FAH gene to outside databases

Previous GC identifers: GC15P076401 GC15P073602 GC15P078021 GC15P078161 GC15P078232 GC15P057208

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FAH:

This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1

hereditary tyrosinemia (HT). (provided by RefSeq, Jul 2008)

Gene Wiki entry for FAH (Fumarylacetoacetate hydrolase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FAH gene promoter:
AhR POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) POU3F2 HNF-1A Arnt PPAR-gamma1 HNF-1 PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FAH promoter sequence

Search SABiosciences Chromatin IP Primers for FAH

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAH

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q25.1 Ensembl cytogenetic band: 15q25.1 HGNC cytogenetic band: 15q25.1

FAH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAH gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15P080445: view genomic region (about GC identifiers)

Start:	80,444,832 bp from pter	End:	80,479,288 bp from pter
Size:	34,457 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FAAA_HUMAN, P16930 (See protein sequence)

Recommended Name: Fumarylacetoacetase

Size: 419 amino acids; 46374 Da

Cofactor: Calcium (By similarity)

Cofactor: Magnesium (By similarity)

Subunit: Homodimer

Secondary accessions: B2R9X1 D3DW95

Explore the universe of human proteins at neXtProt for FAH: NX_P16930

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P16930

4/6 DME Specific Peptides for FAH (P16930) (see all 6)

IGDYTDFY

HLPVGYHGR

WEYVPLGPF

PYTFDINLSV

FAH Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000128.1

ENSEMBL proteins:

ENSP00000453152 ENSP00000385080 ENSP00000261755 ENSP00000453347 ENSP00000454271

ENSP00000454952

Reactome Protein details: P16930
Human Recombinant Protein Products for FAH:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: FAH OriGene Protein Over-expression Lysate: FAH OriGene Custom Protein Services for FAH
	GenScript Custom Purified and Recombinant Proteins Services for FAH
	Novus Biologicals FAH Proteins Novus Biologicals FAH Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for FAH

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--

FAH for ontologies About GeneDecksing

FAH Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for FAH
	GenScript Custom Superior Antibodies Services for FAH
	Novus Biologicals FAH Antibodies
	Abcam antibodies for FAH
	Uscn Antibodies for FAH
	Search ThermoFisher Antibodies for FAH

Assay Products for FAH:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for FAH
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for FAH

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FAH for domains About GeneDecksing

4 InterPro domains/families:

IPR005959 Fumarylacetoacetase

IPR015377 Fumarylacetoacetase_N

IPR002529 Fumarylacetoacetase_C

IPR011234 Fumarylacetoacetase_C-rel

Graphical View of Domain Structure for InterPro Entry P16930

ProtoNet protein and cluster: P16930

1 Blocks protein family: IPB002529 Fumarylacetoacetate (FAA) hydrolase

UniProtKB/Swiss-Prot: FAAA_HUMAN, P16930

Similarity: Belongs to the FAH family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: FAAA_HUMAN, P16930

Catalytic activity: 4-fumarylacetoacetate + H(2)O = acetoacetate + fumarate

Genatlas biochemistry entry for FAH:

fumarylacetoacetate hydrolase,catalyzing the fifth step of tyrosine catabolism

Enzyme Number (IUBMB): EC 3.7.1.2¹ ²

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004334	fumarylacetoacetase activity	EXP	--
GO:0046872	metal ion binding	IEA	--

FAH for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for FAH:

Decreased TP53 protein express

Increased cell number in G1, s

8 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Fah):

cellular	growth/size	homeostasis/metabolism	immune system	liver/biliary system
mortality/aging	renal/urinary system	tumorigenesis

FAH for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Fah^tm1Mgo for FAH

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FAH

miRNA Products:		OriGene 3'-UTR Clone: FAH Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FAH
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate FAH
		SwitchGear 3'UTR luciferase reporter plasmid: FAH 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAH (see all 7) OriGene shRNA RFP: FAH OriGene siRNA: FAH
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAH
		Sirion Biotech Custom design and validation of potent shRNA sequences against FAH

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for FAH
			Sirion Biotech Customized adenovirus for overexpression of FAH Sirion Biotech Customized adenovirus for potent knockdown of FAH

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAH (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAH OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: FAH (NM_000137)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAH
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAH

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for FAH
		Search LifeMap BioReagents cell lines for FAH
		Sirion Biotech Customized stable knockdown cell line services for FAH Sirion Biotech Customized inducible knockdown cell line services for FAH Sirion Biotech Customized stable overexpressing cell line services for FAH Sirion Biotech Customized inducible overexpressing cell line services for FAH

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAH

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

tyrosine degradation I

tyrosine degradation I

1.00

Phenylalanine and tyrosine catabolism

0.56

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

Tyrosine metabolism

Tyrosine metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for FAH

tyrosine degradation I

3 Reactome Pathways for FAH

	Phenylalanine and tyrosine catabolism
	Metabolism
	Metabolism of amino acids and derivatives

2 Kegg Pathways (Kegg details for FAH):

	Tyrosine metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: FAAA_HUMAN, P16930

Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 6/6

FAH for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for FAH

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

5/24 Interacting proteins for FAH (P16930³ ENSP00000261755⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 24)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
EGFR	P00533³, ENSP00000275493⁴	I2D: score=2 STRING: ENSP00000275493
DLG4	P78352³	I2D: score=1
FANCG	ENSP00000367910⁴	STRING: ENSP00000367910
FANCA	ENSP00000373952⁴	STRING: ENSP00000373952
GSTZ1	ENSP00000216465⁴	STRING: ENSP00000216465

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006527	arginine catabolic process	IEA	--
GO:0006559	L-phenylalanine catabolic process	TAS	--
GO:0006572	tyrosine catabolic process	IEA	--
GO:0009072	aromatic amino acid family metabolic process	--	--
GO:0034641	cellular nitrogen compound metabolic process	TAS	--

FAH for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

FAH for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FAH

6 HMDB Compounds for FAH About this table

Compound	Synonyms	CAS #	PubMed Ids
4-Fumarylacetoacetic acid	(E)-4,6-dioxo-2-Octenedioate (see all 6)	28613-33-4	--
Acetoacetic acid	3-Ketobutyrate (see all 9)	541-50-4	--
Calcium	Ca (see all 2)	7440-70-2	--
Fumaric acid	(2E)-But-2-enedioate (see all 22)	110-17-8	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

3 DrugBank Compounds for FAH About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
4-[Hydroxy-[Methyl-Phosphinoyl]]-3-Oxo-Butanoic Acid	--	--	target	--	17139284 17016423 10592235
Acetoacetic Acid	--	541-50-4	target	--	17139284 17016423 10592235
Fumarate	--	110-17-8	target	--	17139284 17016423 10592235

10/19 Novoseek chemical compound relationships for FAH gene (see all 19) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
fumarylacetoacetate	99.4	165	11196105 (4), 1741389 (3), 1998338 (3), 12203990 (2) (see all 85)
succinylacetone	96.5	13	2378358 (2), 1749221 (2), 11209059 (1), 20003495 (1) (see all 10)
succinylacetoacetate	93.6	1	20003495 (1)
2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione	92.2	1	16492973 (1)
maleylacetoacetate	91.2	2	9305902 (1), 15531838 (1)
4-hydroxyphenylpyruvate	89	3	2014797 (1), 17513424 (1), 20003495 (1)
ntbc	87.7	1	16492973 (1)
homogentisate	73.2	2	17513424 (1), 7568087 (1)
tyrosine	68	65	8253377 (2), 1644288 (2), 12944177 (2), 2014797 (1) (see all 39)
acetoacetate	57.1	7	10508789 (1), 15934927 (1), 11154690 (1), 17064256 (1)

Search CenterWatch for drugs/clinical trials and news about FAH / FAAA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FAH gene:

NM_000137.2

Unigene Cluster for FAH:

Fumarylacetoacetate hydrolase (fumarylacetoacetase)

Hs.73875 [show with all ESTs]

Unigene Representative Sequence: NM_000137

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000558022 ENST00000407106(uc002bfm.2) ENST00000537726(uc010unl.2)

ENST00000558767 ENST00000261755 ENST00000561369(uc021srz.1) ENST00000561421

ENST00000539156(uc002bfn.2) ENST00000558627 ENST00000558514 ENST00000559542

ENST00000561353(uc010bln.1) ENST00000559217(uc010blo.1)

miRNA Products:		OriGene 3'-UTR Clone: FAH Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FAH
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate FAH
		SwitchGear 3'UTR luciferase reporter plasmid: FAH 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAH (see all 7) OriGene shRNA RFP: FAH OriGene siRNA: FAH
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAH
		Sirion Biotech Custom design and validation of potent shRNA sequences against FAH

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAH (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAH OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: FAH (NM_000137)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAH
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAH

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAH Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat FAH
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAH
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAH

Additional cDNA sequence:

AK313951.1 BC002527.1 BT007160.1 M55150.1 S63548.1 S63549.1 X51728.1

13 DOTS entries:

DT.447875 DT.100809263 DT.101983859 DT.86854754 DT.100000922 DT.410206 DT.100784112 DT.100025822

DT.100689240 DT.121054506 DT.100025821 DT.97846191 DT.100663465

24/281 AceView cDNA sequences (see all 281):

N62563 BQ229474 BQ051854 BG122956 AI347512 BU178854 BG477285 CR600618

AL048038 NM_000137 AW328181 BQ052266 BQ052148 AL558508 BU679766 BE787159

X51728 AI057453 AW206951 AA337366 BG491713 BG033965 BF727056 M55150

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for FAH (see all 8) About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	·	2c	^	3	^	4	^	5	^	6a	·	6b	^	7a	·	7b	·	7c	·	7d	^	8	^	9	^	10a	·	10b	^	11a	·	11b	^	12	^	13a	·	13b	^	14a	·	14b	^	15a	·
SP1:															-				-				-		-		-												-				-						-
SP2:																			-				-		-		-												-
SP3:					-		-								-				-
SP4:					-		-								-
SP5:															-				-

ExUns:	15b	^	16a	·	16b
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for FAH

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FAH expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGATTTTCTC

About this image

FAH expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Mature Horizontal Cells

Horizontal, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FAH Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAH

SOURCE GeneReport for Unigene cluster: Hs.73875

UniProtKB/Swiss-Prot: FAAA_HUMAN, P16930

Tissue specificity: Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues

SABiosciences Expression via Pathway-Focused PCR Array including FAH:

Amino Acid Metabolism II in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAH Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat FAH
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAH
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAH

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAH

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for FAH gene from 9/32 species (see all 32) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fah^{1 , 5}	fumarylacetoacetate hydrolase^{1, 5}	84.17(n)¹ 88.78(a)¹		7 (48.36 cM)⁵ 14085¹ NM_010176.4¹ NP_034306.2¹ 84585159⁵
chicken (Gallus gallus)	Aves	FAH¹	fumarylacetoacetate hydrolase (fumarylacetoacetase)	73.32(n) 80.77(a)		415482 XM_413855.3 XP_413855.1
lizard (Anolis carolinensis)	Reptilia	FAH⁶	--	80(a)	1 ↔ 1	GL343332.1(507993-535397)
African clawed frog (Xenopus laevis)	Amphibia	fah-prov²	fumarylacetoacetate hydrolase	73.91(n)		BC054283.1
zebrafish (Danio rerio)	Actinopterygii	wufb59b12²	wufb59b12	75.49(n)		322372 BC044366.1
fruit fly (Drosophila melanogaster)	Insecta	Faa^{1 , 3}	fumarylacetoacetase³ Fumarylacetoacetase¹	63(a)³ 60.78(n)¹ 61.52(a)¹		64A5³ 45577¹ NM_080091.3¹ NP_524830.2¹
worm (Caenorhabditis elegans)	Secernentea	K10C2.4³ fah-1¹	fumarylacetoacetase³ Protein FAH-1¹	64(a)³ 59.89(n)¹ 65.13(a)¹		X(6482097-6484173)³ 180918¹ NM_076682.2¹ NP_509083.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	AT1G12050¹	fumarylacetoacetase	58.9(n) 58.74(a)		837757 NM_101077.5 NP_172669.2
rice (Oryza sativa)	Liliopsida	AK070521.1²	--	74.04(n)		AK070521.1

ENSEMBL Gene Tree for FAH (if available)
TreeFam Gene Tree for FAH (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs80338895^1,2	C,F	pathogenic	80460605(+)	`TTCCAG/TCTAAG`	1	--	spa¹		2		NA EU	5873
rs80338898^1,2	C	pathogenic	80465431(+)	`CTCTCC/TGTGGG`	2	P L	mis¹		1		NA	4552
rs80338899^1,2	C	pathogenic	80465435(+)	`CCGTGA/GGTGGT`	2	* W	stg¹		0	--	--	--	--
rs80338900^1,2	C	pathogenic	80472514(+)	`TCAACG/AGCTGC`	2	/S /G	mis¹		1		NA	4546
rs11555096^1,2	C,F,H	pathogenic	80472526(+)	`ACCTGC/TGGCCG`	2	R W	mis¹ ese³		15		NS EA NA EU	7483
rs80338901^1,2	C	pathogenic	80472572(+)	`GGTGAA/GTATCT`	1	--	int¹		0	--	--	--	--
rs193253261^1,2		--	80443394(+)	`GTGGAA/GATAAT`	1	--	us2k¹		0	--	--	--	--
rs184073905^1,2		--	80443663(+)	`TGATCA/CCTGGT`	1	--	us2k¹		0	--	--	--	--
rs186723557^1,2		--	80443671(+)	`GGTCAC/TGCCTG`	1	--	us2k¹		0	--	--	--	--
rs114437349^1,2	F	--	80443679(+)	`CTGGTG/AGACAG`	1	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for FAH (80444832 - 80479288 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for FAH
1 CNV: 10487
Human Gene Mutation Database (HGMD): FAH

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAH

DNA2.0 Custom Variant and Variant Library Synthesis for FAH

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

FAH for disorders About GeneDecksing

OMIM gene information: 613871 OMIM disorders: --

UniProtKB/Swiss-Prot: FAAA_HUMAN, P16930

Defects in FAH are the cause of tyrosinemia type 1 (TYRO1) [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

16 diseases for FAH: About MalaCards

tyrosinemia tyrosinemia type ii tyrosinemia type i metabolic disorders

rickets hyperphenylalaninemia peripheral neuropathy liver disease

hepatocellular carcinoma fanconi syndrome neuropathy nephropathy

adenoma carcinoma hepatitis sepsis

1 disease from the University of Copenhagen DISEASES database for FAH:

Tyrosinemia

10/14 Novoseek disease relationships for FAH gene (see all 14) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosinemia type i	98.3	52	20003495 (3), 12203990 (2), 7702626 (2), 8318997 (2) (see all 32)
tyrosinemias	98	68	2378356 (4), 8005583 (2), 8364576 (2), 7550234 (2) (see all 36)
tyrosinemia type ii	80.3	1	7616655 (1)
rickets	69.4	1	11701644 (1)
metabolic disorder	66.6	18	11154690 (2), 8162054 (2), 11209059 (1), 7545495 (1) (see all 10)
liver failure	62.4	2	1297646 (1), 11196105 (1)
hepatocellular carcinoma	62.3	3	11196105 (1), 11476670 (1), 9305902 (1)
genetic disorder	60.7	16	16899383 (1), 8253377 (1), 11532983 (1), 16414314 (1) (see all 11)
alkaptonuria	58.1	1	7568087 (1)
liver diseases	50.6	7	8589717 (1), 8253377 (1), 1644288 (1), 11196105 (1)

Genatlas disease: FAH

tyrosinemia I,hepatorenal

GeneTests: FAH

Tyrosinemia Type I

Human Genome Epidemiology (HuGE) Navigator: FAH (24 documents)

Export disorders for FAH gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for FAH gene, integrated from 9 sources (see all 135):
(articles sorted by number of sources associating them with FAH)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15. (PubMed id 1998338)^{1, 2, 3, 9} Phaneuf D....Tanguay R.M. (1991)
Nucleotide sequence of cDNA encoding human fumarylacetoacetase. (PubMed id 2336361)^{1, 2, 3, 9} Agsteribbe E....Berger R. (1990)
Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. (PubMed id 1401056)^{1, 2, 9} Phaneuf D....Tanguay R.M. (1992)
Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. (PubMed id 11278491)^{1, 2, 9} Bergeron A.... Tanguay R.M. (2001)
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. (PubMed id 11476670)^{1, 2, 9} Dreumont N....Tanguay R.M. (2001)
Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship. (PubMed id 8557261)^{1, 2, 9} Ploos van Amstel J.K.... Berger R. (1996)
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase. (PubMed id 8005583)^{1, 2, 9} Rootwelt H....Kvittingen E.A. (1994)
Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. (PubMed id 8364576)^{1, 2, 9} Labelle Y.... Tanguay R.M. (1993)
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I. (PubMed id 7977370)^{1, 2, 9} Rootwelt H.... Kvittingen E.A. (1994)
Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. (PubMed id 11196105)^{1, 2, 9} Kim S.Z....Levy H.L. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2184	HGNC: 3579	AceView: FAH	Ensembl:ENSG00000103876	euGenes: HUgn2184
ECgene: FAH	Kegg: 2184	H-InvDB: FAH

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for FAH	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FAH

Intellectual Property for FAH gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FAH gene:
Search GeneIP for patents involving FAH

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for FAH
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAH		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FAH
	OriGene Protein Over-expression Lysate for FAH		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for FAH		OriGene 3'-UTR Clone for FAH
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAH		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAH
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for FAH		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for FAH		OriGene Custom Protein Services for FAH
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FAH
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FAH
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAH
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAH
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAH
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAH

	GenScript Custom Purified and Recombinant Proteins Services for FAH		GenScript cDNA clones with any tag delivered in your preferred vector for FAH
	GenScript Custom Assay Services for FAH		GenScript Custom Superior Antibodies Services for FAH
	GenScript Custom overexpressing Cell Line Services for FAH		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in FAH promoter
	Search Chromatin IP Primers for FAH
	RT² qPCR Primer Assay in human, mouse, rat FAH
	Search GNC Networks for FAH
	SABiosciences PCR Arrays including human, mouse, rat FAH

Search Tocris compounds for FAH

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	FAH antibodies
	FAH proteins
	FAH lysates

	Antibodies for FAH
	See all of Abcam's Antibodies, Kits and Proteins for FAH
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

FAH Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for FAH

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAH

	SwitchGear 3'UTR luciferase reporter plasmids for FAH
	SwitchGear Promoter luciferase reporter plasmids for FAH

Search ThermoFisher Antibodies for FAH

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAH

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for FAH

Sirion Biotech Customized:

	stable knockdown cell line services for FAH
	inducible knockdown cell line services for FAH
	design and validation of potent shRNA sequences against FAH
	adenovirus for potent knockdown of FAH
	adenovirus for overexpression of FAH
	stable overexpressing cell line services for FAH
	inducible overexpressing cell line services for FAH

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes FAH gene at Home site.

hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4

Advanced Search

Export list of displayed genes

FAH Gene

fumarylacetoacetate hydrolase (fumarylacetoacetase)

Aliases
for FAH gene

Summaries
for FAH gene

Genomic Views
for FAH gene

Proteins
for FAH gene

Protein Domains /
Families
for FAH gene

Function
for FAH gene

Pathways & Interactions
for FAH gene

Drugs & Compounds
for FAH gene

Transcripts
for FAH gene

Expression
for FAH gene

Orthologs
for FAH gene

Paralogs
for FAH gene

Genomic Variants
for FAH gene

Disorders / Diseases
for FAH gene

Publications
for FAH gene

External Searches for FAH gene

Genome Databases showing FAH gene

Other Databases showing FAH gene

Specialized Databases showing FAH gene

Intellectual Property
for FAH gene

Products
for FAH gene

View Random Gene

Advanced Search

Export list of displayed genes

FAH Gene

fumarylacetoacetate hydrolase (fumarylacetoacetase)

Aliasesfor FAH gene

Summariesfor FAH gene

Genomic Viewsfor FAH gene

Proteinsfor FAH gene

Protein Domains /Familiesfor FAH gene

Functionfor FAH gene

Pathways & Interactionsfor FAH gene

Drugs & Compoundsfor FAH gene

Transcriptsfor FAH gene

Expression for FAH gene

Orthologsfor FAH gene

Paralogsfor FAH gene

Genomic Variantsfor FAH gene

Disorders / Diseasesfor FAH gene

Publicationsfor FAH gene

External Searches for FAH gene

Genome Databases showing FAH gene

Other Databases showing FAH gene

Specialized Databases showing FAH gene

Intellectual Propertyfor FAH gene

Productsfor FAH gene

View Random Gene

Aliases
for FAH gene

Summaries
for FAH gene

Genomic Views
for FAH gene

Proteins
for FAH gene

Protein Domains /
Families
for FAH gene

Function
for FAH gene

Pathways & Interactions
for FAH gene

Drugs & Compounds
for FAH gene

Transcripts
for FAH gene

Expression
for FAH gene

Orthologs
for FAH gene

Paralogs
for FAH gene

Genomic Variants
for FAH gene

Disorders / Diseases
for FAH gene

Publications
for FAH gene

Intellectual Property
for FAH gene

Products
for FAH gene