Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2184
Gene name	Fumarylacetoacetate hydrolase
Gene symbol	FAH
Synonyms (NCBI Gene)	-
Chromosome	15
Chromosome location	15q25.1
Summary	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]

Show/Hide all (72)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11555096	C>A,T	Other, pathogenic, benign	Missense variant, coding sequence variant, synonymous variant
rs36122289	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs80338894	G>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs80338895	G>C,T	Pathogenic	Splice acceptor variant
rs80338897	A>T	Pathogenic	Missense variant, coding sequence variant
rs80338898	C>T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs80338899	G>A	Pathogenic	Coding sequence variant, stop gained
rs80338900	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs80338901	G>A	Pathogenic	Intron variant
rs121965073	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs121965074	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs121965075	G>T	Pathogenic	Coding sequence variant, stop gained
rs121965076	G>T	Pathogenic	Coding sequence variant, stop gained
rs121965077	A>G	Pathogenic	Missense variant, coding sequence variant
rs121965078	A>G	Pathogenic	Missense variant, coding sequence variant
rs138757552	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147016995	C>A,G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs149052294	G>A,T	Pathogenic	Splice acceptor variant
rs201051426	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs370634385	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs370686447	G>A,T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs372980573	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs377480457	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs533540262	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs750741137	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs765134063	C>T	Pathogenic	Stop gained, coding sequence variant
rs768180953	ATGACTGTGAGTGACCGCAGCGTCCA>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs769550316	C>T	Pathogenic	Stop gained, coding sequence variant
rs771712041	G>A,C	Likely-pathogenic	Splice acceptor variant
rs772895065	T>A,C	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Splice donor variant
rs774648934	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs775152764	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs778387055	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs779040832	C>T	Pathogenic	Coding sequence variant, missense variant
rs779284513	TCT>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs779642226	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs781496816	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs786204551	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786204683	G>T	Pathogenic-likely-pathogenic	Splice donor variant
rs886044640	C>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs970505762	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs980415517	G>A	Pathogenic	Splice donor variant
rs1057516333	G>A	Likely-pathogenic	Splice acceptor variant
rs1057516408	G>A	Likely-pathogenic	Splice donor variant
rs1057516631	T>C,G	Likely-pathogenic	Terminator codon variant, stop lost
rs1057516679	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1057516684	ACTTACCAGTGGGCTACCATGGCCGTGCCTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516934	T>A	Likely-pathogenic	Initiator codon variant, missense variant
rs1057517084	T>-,TT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517113	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517201	G>A	Likely-pathogenic	Splice donor variant
rs1057517341	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517436	TC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517972	A>G	Pathogenic, likely-pathogenic	Initiator codon variant, missense variant
rs1247460110	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1297118863	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555440522	A>G	Likely-pathogenic	Splice acceptor variant
rs1555440603	A>G	Likely-pathogenic	Splice acceptor variant
rs1555441251	A>G	Likely-pathogenic	Splice acceptor variant
rs1555441272	TG>-	Pathogenic-likely-pathogenic	Splice donor variant, coding sequence variant, intron variant
rs1555441597	T>G	Pathogenic-likely-pathogenic	Splice donor variant
rs1555441703	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555441852	->TGGCCCCTGCC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555441861	->T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555442289	A>C	Likely-pathogenic	Splice acceptor variant
rs1555442385	A>G	Likely-pathogenic	Splice acceptor variant
rs1567118987	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1595889891	CC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1595890740	T>G	Likely-pathogenic	Splice donor variant
rs1595894742	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1595897321	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1595897345	GT>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (72)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019924	hsa-miR-375	Microarray	20215506
MIRT025492	hsa-miR-34a-5p	Proteomics	21566225
MIRT030485	hsa-miR-24-3p	Microarray	19748357
MIRT048789	hsa-miR-93-5p	CLASH	23622248
MIRT975314	hsa-miR-1305	CLIP-seq
MIRT975315	hsa-miR-3671	CLIP-seq
MIRT975316	hsa-miR-4753-3p	CLIP-seq
MIRT975317	hsa-miR-607	CLIP-seq
MIRT2387607	hsa-miR-1273e	CLIP-seq
MIRT2387608	hsa-miR-296-3p	CLIP-seq
MIRT2387609	hsa-miR-342-5p	CLIP-seq
MIRT2387610	hsa-miR-3936	CLIP-seq
MIRT2387611	hsa-miR-4664-5p	CLIP-seq
MIRT2387612	hsa-miR-488	CLIP-seq
MIRT2387613	hsa-miR-513a-5p	CLIP-seq
MIRT2387614	hsa-miR-636	CLIP-seq
MIRT2527323	hsa-miR-1225-3p	CLIP-seq
MIRT2527324	hsa-miR-1233	CLIP-seq
MIRT2387607	hsa-miR-1273e	CLIP-seq
MIRT2527325	hsa-miR-129-3p	CLIP-seq
MIRT2527326	hsa-miR-1321	CLIP-seq
MIRT2527327	hsa-miR-2278	CLIP-seq
MIRT2387608	hsa-miR-296-3p	CLIP-seq
MIRT2527328	hsa-miR-3180-5p	CLIP-seq
MIRT2387609	hsa-miR-342-5p	CLIP-seq
MIRT2387610	hsa-miR-3936	CLIP-seq
MIRT2527329	hsa-miR-4419a	CLIP-seq
MIRT2527330	hsa-miR-4420	CLIP-seq
MIRT2527331	hsa-miR-4510	CLIP-seq
MIRT2527332	hsa-miR-4650-5p	CLIP-seq
MIRT2387611	hsa-miR-4664-5p	CLIP-seq
MIRT2527333	hsa-miR-4704-3p	CLIP-seq
MIRT2527334	hsa-miR-4730	CLIP-seq
MIRT2527335	hsa-miR-4739	CLIP-seq
MIRT2527336	hsa-miR-4751	CLIP-seq
MIRT2527337	hsa-miR-4756-5p	CLIP-seq
MIRT2527338	hsa-miR-4790-3p	CLIP-seq
MIRT2387612	hsa-miR-488	CLIP-seq
MIRT2387613	hsa-miR-513a-5p	CLIP-seq
MIRT2527339	hsa-miR-520a-5p	CLIP-seq
MIRT2527340	hsa-miR-525-5p	CLIP-seq
MIRT2387614	hsa-miR-636	CLIP-seq
MIRT2527341	hsa-miR-668	CLIP-seq
MIRT2527323	hsa-miR-1225-3p	CLIP-seq
MIRT2527324	hsa-miR-1233	CLIP-seq
MIRT2387607	hsa-miR-1273e	CLIP-seq
MIRT2527325	hsa-miR-129-3p	CLIP-seq
MIRT2527326	hsa-miR-1321	CLIP-seq
MIRT2527327	hsa-miR-2278	CLIP-seq
MIRT2387608	hsa-miR-296-3p	CLIP-seq
MIRT2527328	hsa-miR-3180-5p	CLIP-seq
MIRT2387609	hsa-miR-342-5p	CLIP-seq
MIRT2680445	hsa-miR-3919	CLIP-seq
MIRT2387610	hsa-miR-3936	CLIP-seq
MIRT2527329	hsa-miR-4419a	CLIP-seq
MIRT2527330	hsa-miR-4420	CLIP-seq
MIRT2680446	hsa-miR-4468	CLIP-seq
MIRT2527331	hsa-miR-4510	CLIP-seq
MIRT2527332	hsa-miR-4650-5p	CLIP-seq
MIRT2387611	hsa-miR-4664-5p	CLIP-seq
MIRT2527333	hsa-miR-4704-3p	CLIP-seq
MIRT2527334	hsa-miR-4730	CLIP-seq
MIRT2527335	hsa-miR-4739	CLIP-seq
MIRT2527336	hsa-miR-4751	CLIP-seq
MIRT2527337	hsa-miR-4756-5p	CLIP-seq
MIRT2527338	hsa-miR-4790-3p	CLIP-seq
MIRT2387612	hsa-miR-488	CLIP-seq
MIRT2387613	hsa-miR-513a-5p	CLIP-seq
MIRT2527339	hsa-miR-520a-5p	CLIP-seq
MIRT2527340	hsa-miR-525-5p	CLIP-seq
MIRT2387614	hsa-miR-636	CLIP-seq
MIRT2527341	hsa-miR-668	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004334	Function	Fumarylacetoacetase activity	IBA
GO:0004334	Function	Fumarylacetoacetase activity	IEA
GO:0004334	Function	Fumarylacetoacetase activity	TAS	1998338
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0006527	Process	L-arginine catabolic process	IEA
GO:0006559	Process	L-phenylalanine catabolic process	IBA
GO:0006559	Process	L-phenylalanine catabolic process	IEA
GO:0006572	Process	L-tyrosine catabolic process	IBA
GO:0006572	Process	L-tyrosine catabolic process	IEA
GO:0006572	Process	L-tyrosine catabolic process	TAS	9305902
GO:0006629	Process	Lipid metabolic process	IEA
GO:0009072	Process	Aromatic amino acid metabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1902000	Process	Homogentisate catabolic process	IBA

MIM	HGNC	e!Ensembl
613871	3579	ENSG00000103876

P16930

Protein name

Fumarylacetoacetase (FAA) (EC 3.7.1.2) (Beta-diketonase) (Fumarylacetoacetate hydrolase)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09298	FAA_hydrolase_N	15 → 118	Fumarylacetoacetase N-terminal	Domain
PF01557	FAA_hydrolase	123 → 413	Fumarylacetoacetate (FAA) hydrolase family	Family

Tissue specificity

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

Sequence

MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQD
VFNQPTLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPAT
IGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYHGRASSVVVSGTPIRRPMGQM
KPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPISKAHEHIFGMVLMNDWSARDIQ
KWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQDPRPLPYLCHDEPYTFDINLS
VNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFG
SMLELSWKGTKPIDLGNGQTRKFLLDGDEVIITGYCQGDGYRIGFGQCAGKVLPALLPS

Sequence length

419

Interactions

View interactions

	KEGG		Reactome
	Tyrosine metabolism Metabolic pathways		Tyrosine catabolism

817

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Beta-D-mannosidosis	Likely pathogenic	rs1057517201	RCV004544721
FAH-related disorder	Likely pathogenic; Pathogenic	rs80338901, rs121965075, rs80338895, rs80338898	RCV003407317 RCV003407318 RCV004752701 RCV004752715
Familial cancer of breast	Pathogenic	rs1555442385	RCV005901511
Nonpapillary renal cell carcinoma	Pathogenic	rs2142107894	RCV005922534
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs80338901	RCV005887462
See cases	Pathogenic	rs1057517972	RCV003231470
T-substance anomaly	Pathogenic	rs80338894	RCV003445079
Thymoma	Likely pathogenic; Pathogenic	rs80338901	RCV005887463
Thyroid cancer, nonmedullary, 1	Pathogenic	rs80338895	RCV005887464
Tyrosinemia	Likely pathogenic; Pathogenic	rs80338901, rs1057517972	RCV004798722 RCV004798829
Tyrosinemia type I	Likely pathogenic; Pathogenic	rs1057517972, rs1595890740, rs2041368952, rs2142090708, rs1193030161, rs765527687, rs2142101647, rs754444882, rs2142101046, rs2142107894, rs2142105483, rs2142112670, rs2142101007, rs2142103306, rs2041114940 View all (130 more)	RCV001376937 RCV001379872 RCV001377387 RCV001386192 RCV001389730 RCV001387636 RCV001384369 RCV001728049 RCV001783237 RCV001795584 RCV002027925 RCV001884381 RCV001911782 RCV001895014 RCV001874170 RCV001986849 RCV001939363 RCV002036343 RCV001958650 RCV001956309 RCV002050944 RCV001951445 RCV002249974 RCV002308273 RCV002310116 RCV000169491 RCV000169065 RCV000169069 RCV000169267 RCV003064290 RCV002630829 RCV002635009 RCV002741375 RCV002801918 RCV002933093 RCV003054966 RCV003226638 RCV003230877 RCV000012640 RCV000012641 RCV000012642 RCV000012644 RCV000012645 RCV000012646 RCV000012647 RCV000012648 RCV000012649 RCV000012650 RCV000984172 RCV003460100 RCV003468077 RCV003468078 RCV003460101 RCV003460102 RCV003460103 RCV003460104 RCV003468079 RCV003460105 RCV003460106 RCV003468080 RCV003468081 RCV003460108 RCV003460109 RCV003460110 RCV003460111 RCV003460112 RCV003468082 RCV003460113 RCV003460114 RCV003448820 RCV003518273 RCV003518358 RCV003518752 RCV003516926 RCV003517746 RCV003633752 RCV003633850 RCV003634653 RCV003635069 RCV003635131 RCV003635223 RCV003635334 RCV003634190 RCV003865413 RCV003857027 RCV003990616 RCV000020126 RCV000020127 RCV000020128 RCV000020129 RCV004547285 RCV004576498 RCV004576499 RCV004576500 RCV004576501 RCV004576502 RCV004576503 RCV004576504 RCV000412267 RCV000410365 RCV000409344 RCV000410626 RCV000410205 RCV000409617 RCV000412142 RCV000409803 RCV000409747 RCV000409787 RCV000411340 RCV000409775 RCV000411156 RCV000410008 RCV000409632 RCV000984171 RCV000454161 RCV000502414 RCV000541997 RCV000665905 RCV000669746 RCV000674680 RCV000666109 RCV000673058 RCV000668164 RCV000670317 RCV000674888 RCV000665974 RCV000674452 RCV000667011 RCV000667407 RCV000666812 RCV000665299 RCV000671736 RCV000666014 RCV000674905 RCV000673102 RCV000699322 RCV000786984 RCV000813518 RCV000816762 RCV000801084 RCV000989362 RCV000989363 RCV001004595 RCV001004597 RCV001004598 RCV001068812 RCV001055325 RCV001051750 RCV001192778 RCV001192777 RCV001222787 RCV001215629 RCV001216255 RCV001207091 RCV001202858 RCV001230099 RCV001240948 RCV001264276 RCV001264277 RCV001264278 RCV001263703 RCV001263704 RCV001270865 RCV000179256
Tyrosinemia type II	Pathogenic	rs80338894	RCV004576910

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs60585303, rs199501793	RCV005891172 RCV005896626
Cervical cancer	Benign	rs60585303	RCV005891173
Cholangiocarcinoma	Benign	rs75782446	RCV005924405
Clear cell carcinoma of kidney	Benign; Likely benign	rs60585303, rs199501793	RCV005891174 RCV005896627
Familial prostate cancer	Conflicting classifications of pathogenicity	rs767329352	RCV005898127
Fumarylacetoacetase pseudodeficiency	Benign; Likely benign; other	rs11555096	RCV000012643
Hepatoblastoma	Uncertain significance	rs2142097943	RCV001843906
Hypertyrosinemia	Benign; Likely benign; Conflicting classifications of pathogenicity	rs200464452, rs547847694, rs56043846	RCV000389756 RCV000357369 RCV000387673
Melanoma	-	rs2505844682	RCV005931784
Renal tubulopathies	Conflicting classifications of pathogenicity	rs774648934	RCV006447261
Sarcoma	Benign	rs75782446, rs60585303	RCV005924402 RCV005891175
Uterine carcinosarcoma	Benign	rs60585303	RCV005891176
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs75782446, rs199501793	RCV005924406 RCV005896628

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	11476670
Carcinoma Hepatocellular	Stimulate	33218190
Carcinoma Hepatocellular	Inhibit	34704422
Carcinoma Ovarian Epithelial	Associate	37890478
Cardiomyopathies	Associate	24016420
Diabetes Mellitus Type 1	Associate	29497141
Fanconi Anemia	Associate	10936108, 9382107
Fatigue Syndrome Chronic	Associate	33669532
Hereditary Sensory and Autonomic Neuropathies	Associate	7568087
Kidney Diseases	Associate	36369907
Kozlowski Tsuruta Taki syndrome	Associate	7568087
Liver Diseases	Associate	24016420
Obesity	Associate	22272336
Sepsis	Associate	24016420
Tyrosinemias	Associate	11476670, 20003495, 24016420, 31300554, 31568711, 33218190, 33882394, 34704422, 36369907, 36463171, 39260601, 7913582, 7929843, 7942842, 7977370, 8028615, 8473520, 8707285 View all (3 more)

FAH (fumarylacetoacetate hydrolase)