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FAH Gene

protein-coding GIFtS: 65

GC15P078232

fumarylacetoacetate hydrolase (fumarylacetoacetase)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

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

Aliases
Beta-diketonase ^³
EC 3.7.1.2 ^³
FAA ^³
fumarylacetoacetase ^²

Descriptions
Fumarylacetoacetate hydrolase ^³
fumarylacetoacetate hydrolase (fumarylacetoacetase) ^²
tyrosinaemia type I ^²

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

Search outside databases for aliases for FAH gene

Previous GC identifers: GC15P076401 GC15P073602 GC15P078021 GC15P078161

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

EntrezGene 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]

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the FAH gene

Entrez Gene cytogenetic band: 15q23-q25 Ensembl cytogenetic band: 15q25.1 HGNC cytogenetic band: 15q23-q25

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

GeneLoc gene densities for chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15P078232: (about GC identifiers)

Start:	78,232,177 bp from pter
End:	78,266,343 bp from pter
Size:	34,167 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000015.8 NT_010194.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000128.1

ENSEMBL proteins:

ENSP00000261755 ENSP00000385080

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Fumarylacetoacetate hydrolase)
	Human Recombinant Proteins from Abnova (FAH)

OriGene Purified Recombinant Human Protein: FAH

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	EXP	8364576

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Antibodies for FAH:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for FAH
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Fumarylacetoacetate hydrolase), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (FAH)
	Novus Biologicals Antibody for FAH

Assays for FAH:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (FAH)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (FAH)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000137

Applied Biosystems Silencer® siRNAs for FAH

Sigma-Aldrich siRNA and siRNA Panels for FAH

Sigma-Aldrich shRNA for FAH

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for FAH
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000137
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000137
untagged cDNA clone in CMV expression vector: NM_000137

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000137

UniProtKB/Swiss-Prot: FAAA_HUMAN, P16930

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

Enzyme Number (IUBMB): EC 3.7.1.2

Genatlas biochemistry entry for FAH:

fumarylacetoacetate hydrolase,catalyzing the fifth step of tyrosine catabolism

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

growth/size	homeostasis/metabolism	immune system	lethality-postnatal	lethality-prenatal/perinatal
liver/biliary system	renal/urinary system

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000287	magnesium ion binding	IEA	--
GO:0004334	fumarylacetoacetase activity	TAS	1998338
GO:0005509	calcium ion binding	IEA	--
GO:0016787	hydrolase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for FAH (Your Favorite Gene powered by Ingenuity)

Tyrosine Metabolism

GeneDecks FAH for the pathways selected above

About GeneDecksing

UniProtKB/Swiss-Prot: FAAA_HUMAN, P16930

Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetic acid and fumarate from

L-phenylalanine: step 6/6

5/12 Interacting proteins for FAH (ENSP00000261755³) via UniProtKB, MINT, and/or STRING (see all 12 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GSTZ1	ENSP00000216465³	STRING (score=.99)
HPD	ENSP00000289004³	STRING (score=.981)
HGD	ENSP00000283871³	STRING (score=.915)
ALAD	ENSP00000363288³	STRING (score=.852)
FH	ENSP00000355518³	STRING (score=.8)

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5 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006527	arginine catabolic process	IEA	--
GO:0006559	L-phenylalanine catabolic process	IEA	--
GO:0006572	tyrosine catabolic process	TAS	9305902
GO:0008152	metabolic process	IEA	--
GO:0009072	aromatic amino acid family metabolic process	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for FAH
10/11 Novoseek chemical compound relationships for FAH gene (see all 11 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
fumarylacetoacetate	99.37	162	11196105 (4), 1741389 (3), 1998338 (3), 12203990 (2) (see all 82)
maleylacetoacetate	91.32	2	9305902 (1), 15531838 (1)
ntbc	88.31	1	16492973 (1)
homogentisate	73.92	2	17513424 (1), 7568087 (1)
tyrosine	68.30	63	8253377 (2), 1644288 (2), 12944177 (2), 2014797 (1) (see all 37)
acetoacetate	58.10	7	10508789 (1), 15934927 (1), 11154690 (1), 17064256 (1)
bgl ii	51.29	1	1350265 (1)
mspi	50.11	2	1722306 (1)
rsai	47.32	2	1674379 (1)
phenylalanine	46.61	3	10508789 (1), 7568087 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (FAH)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (FAH)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000137

Sigma-Aldrich siRNA and siRNA Panels for FAH

Sigma-Aldrich shRNA for FAH

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000137

REFSEQ mRNAs for FAH gene:

NM_000137.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000137

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000137
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000137
                                 untagged cDNA clone in CMV expression vector: NM_000137

Additional cDNA sequence:

AK297965.1 AK313951.1 AL109715.1 BC002527.1 BT007160.1 CR593179.1 CR600618.1 CR603970.1

CR605525.1 CR612848.1 CR617015.1 CR623289.1 CR624063.1 M55150.1 S63548.1 S63549.1

X51728.1

13 DOTS entries:

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

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

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

BQ052266 BQ051988 BG033965 BE514002 BX117399 AL598665 BP340208 NM_000137

BE326748 AA700567 BC002527 CR612848 AI057453 CR624063 BG491713 AA777366

BG477285 AW444672 H57100 BQ229474 AI347512 BQ052148 CR605525 BM126301

highest scoring ESTs for FAH:

M55150 AA101494 AA534626 AA534645 AA555140 AA555264 AA652439 AA777102 AA946814 AA969802

Unigene Cluster for FAH:

Fumarylacetoacetate hydrolase (fumarylacetoacetase)

Hs.73875 [show with all ESTs]

Unigene Representative Sequence: CR605525

GeneLoc Exon Structure

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

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:

About this scheme

ECgene alternative splicing isoforms for FAH

2 Ensembl transcripts including schematic representations:

ENST00000261755 ENST00000407106

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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FAH expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for FAH

¹ / ² / ³

4 probe-sets matching FAH gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
36876_at²^{, 3}	U95-A	1	1.00	1.00	0.78	1.26	M55150	1.00	1.00	1.00	1
55228_at²^{, 3}	U95-C	3	0.31	0.48	0.34	0.77	AI473766	0.20	1.00	0.72	1
202862_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000137	0.60	1.00	0.82	1
202862_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks FAH for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: AGATTTTCTC

SOURCE GeneReport for Unigene cluster: Hs.73875
Expression variation in blood from EXPOLDB for FAH
UniProtKB/Swiss-Prot: FAAA_HUMAN, P16930
Tissue specificity: Mainly in liver and kidney. Lower levels are also detected in many other
tissues

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for FAH gene from 5/22 species (see all 22 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	FAH¹	--	fumarylacetoacetate hydrolase (fumarylacetoacetase)	88.05(n) 89.5(a)	610140 XM_847553.1 XP_852646.1
chimpanzee (Pan troglodytes)	FAH¹	--	fumarylacetoacetate hydrolase (fumarylacetoacetase)	99.2(n) 99.05(a)	467738 XM_001155476.1 XP_001155476.1
cow (Bos taurus)	FAH¹	--	fumarylacetoacetate hydrolase (fumarylacetoacetase)	89.5(n) 91.35(a)	508724 XM_585546.3 XP_585546.3
rat (Rattus norvegicus)	Fah¹	--	fumarylacetoacetate hydrolase	84.81(n) 88.54(a)	29383 NM_017181.2 NP_058877.1
mouse (Mus musculus)	Fah^{1, 5}	7 (42.60 cM)⁵	fumarylacetoacetate hydrolase^{1, 5}	84.01(n)¹ 88.31(a)¹	14085¹ NM_010176.2¹ NP_034306.1¹ AK143759⁵ AK158808⁵ (see all 9)

About this table Species with no ortholog for FAH

ENSEMBL Gene Tree for FAH

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

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/209 NCBI SNPs in FAH are shown (see all 209 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 115)

AB	SNP ID	Valid	Chr 15 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs8041120^1,2	A,C,F,H	78230812(+)	`CTCTCA/GAGCCG`	1	--	ng5¹		8	EU EA WA	814
	rs8042782^1,2	A,C,F,H	78231008(+)	`AAAAGT/GGTACC`	1	--	ng5¹		3	EU EA	292
	rs11856087^1,2	A,C,F,H	78231928(+)	`GGAGGG/ACCTGG`	1	--	ng5¹		3	EU EA	272
	rs11855351^1,2	C,F,H	78231732(+)	`CCGGGG/ACGAGC`	1	--	ng5¹		8	EU EA WA	832
	rs11856039^1,2	C,F,H	78231837(+)	`GATCTC/TCCCCA`	1	--	ng5¹		3	EU EA	292
	rs1049194^1,2	C,F,H	78265700(+)	`CGCCAT/CTCAGT`	1	--	ut3¹		13	MN EU EA WA NA	1380
--	rs11555096^1,2	C	78259581(-)	`CGGCCG/ACAGGT`	1	W/R	mis¹ ese³		4	EU EA WA	420
	rs3189268^1,2	F	78265613(+)	`ATTTTC/TTCTGC`	1	--	ut3¹		1	MN	184
	rs1801374^1,2	C,F,H	78259616(+)	`ATCAGC/TGGGCC`	1	S/S	syn¹ ese³		6	MN EU EA WA NA	544
	rs28733633^1,2	C	78237540(+)	`GTCCTC/TTCCAA`	1	L/L	syn¹ ese³		1	NA	78

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HapMap Linkage Disequilibrium images for FAH (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 276700

UniProtKB/Swiss-Prot: FAAA_HUMAN, P16930

Defects in FAH are the cause of tyrosinemia type 1 (TYRO1) [MIM:276700]. TYRO1 is 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. TYRO1 is a rare condition, except in the Saguenay-lac-St-Jean region (province of

Quebec, Canada) where the frequency is high as the result of a founder effect

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

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosinemia type i	98.39	49	12203990 (2), 7702626 (2), 8318997 (2), 8473520 (2) (see all 31)
tyrosinemias	98.10	67	2378356 (4), 8005583 (2), 8364576 (2), 7550234 (2) (see all 35)
tyrosinemia type ii	80.92	1	7616655 (1)
rickets	70.69	1	11701644 (1)
metabolic disorder	68.29	18	11154690 (2), 8162054 (2), 11209059 (1), 7545495 (1) (see all 10)
hepatocellular carcinoma	63.75	3	11196105 (1), 11476670 (1), 9305902 (1)
liver failure	63.65	2	1297646 (1), 11196105 (1)
genetic disorder	62.14	16	16899383 (1), 8253377 (1), 11532983 (1), 16414314 (1) (see all 11)
alkaptonuria	59.59	1	7568087 (1)
liver diseases	52.37	7	8589717 (1), 8253377 (1), 1644288 (1), 11196105 (1)

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Genatlas disease: FAH

tyrosinemia I,hepatorenal

GeneTests: FAH

Tyrosinemia Type I

Human Gene Mutation Database: FAH
Human Genome Epidemiology Navigator: FAH (11 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

New EXPLORER Results Show Patients Achieved Dramatic Reductions in C-Reactive Protein And LDL-C Levels With Rosuvastatin Combination Therapy

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

10/115 PubMed articles for FAH gene (see all 115 ):

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, 4} Phaneuf D....Tanguay R.M. (1991)
Nucleotide sequence of cDNA encoding human fumarylacetoacetase. (PubMed id 2336361)^{1, 2, 3, 4} 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, 3, 4} 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, 3, 4} Bergeron A.... 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, 3, 4} 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, 3, 4} 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, 3, 4} 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, 3, 4} Rootwelt H.... Kvittingen E.A. (1994)
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview. (PubMed id 9101289)^{1, 3, 4} St Louis M. and Tanguay R.M. (1997)
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. (PubMed id 7550234)^{1, 3, 4} Hahn S.H.... Gahl W.A. (1995)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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, and/or H-InvDB)
About This Section

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

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
GeneReviews	http://www.genetests.org/query?gene=FAH

Licensable Technologies for FAH
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for FAH:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for FAH-related products

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

	Predesigned and custom siRNAs for FAH		Antibodies for FAH
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for FAH		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
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	Flow Cytometry Kits		Protease Activity Assays & Reagents
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Antibodies for FAH

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Gene Index: 3 5 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

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FAH Gene at Home site.
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FAH Gene

protein-coding GIFtS: 65

Aliases &
Descriptions
for FAH

Summaries
for FAH

Genomic Location
for FAH

Proteins
for FAH

Protein Domains/
Families
for FAH

Gene Function
for FAH

Pathways & Interactions
for FAH

Drugs & Compounds
for FAH

Transcripts
for FAH

Expression
for FAH

Orthologs
for FAH

Paralogs
for FAH

SNPs/Variants
for FAH

Disorders & Mutations
for FAH

Medical News
for FAH

Publications
for FAH

Search for FAH

Genome Databases showing FAH

Other Databases showing FAH

Specialized Databases showing FAH

Licensable Technologies
for FAH

Services
for FAH

Gene Index: 3 5 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

FAH Gene

protein-coding GIFtS: 65

Aliases & Descriptionsfor FAH

Summariesfor FAH

Genomic Locationfor FAH

Proteinsfor FAH

Protein Domains/Familiesfor FAH

Gene Functionfor FAH

Pathways & Interactionsfor FAH

Drugs & Compoundsfor FAH

Transcriptsfor FAH

Expression for FAH

Orthologsfor FAH

Paralogsfor FAH

SNPs/Variantsfor FAH

Disorders & Mutationsfor FAH

Medical Newsfor FAH

Publicationsfor FAH

Search for FAH

Genome Databases showing FAH

Other Databases showing FAH

Specialized Databases showing FAH

Licensable Technologiesfor FAH

Servicesfor FAH

Gene Index: 3 5 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

Aliases &
Descriptions
for FAH

Summaries
for FAH

Genomic Location
for FAH

Proteins
for FAH

Protein Domains/
Families
for FAH

Gene Function
for FAH

Pathways & Interactions
for FAH

Drugs & Compounds
for FAH

Transcripts
for FAH

Expression
for FAH

Orthologs
for FAH

Paralogs
for FAH

SNPs/Variants
for FAH

Disorders & Mutations
for FAH

Medical News
for FAH

Publications
for FAH

Licensable Technologies
for FAH

Services
for FAH