FAH - fumarylacetoacetate hydrolase Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2184

About FAH

Cytogenetic location: 15q25.1 Genomic coordinates (GRCh38): 15:80,152,789-80,186,949 (from NCBI)

This gene has 18 transcripts (splice variants), 202 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in liver (RPKM 62.1), fat (RPKM 60.9) and 20 other tissues.

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]

FAH Products (3)

mRNA	Protein	Name
NM_000137.4	NP_000128.1	fumarylacetoacetase
NM_001374377.1	NP_001361306.1	fumarylacetoacetase
NM_001374380.1	NP_001361309.1	fumarylacetoacetase

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FAH Protein Structure

FAA_hydrolase_N

FAA_hydrolase

0
100
200
300
400
419 a.a.

Protein Preferred Names	Protein Names
fumarylacetoacetase	FAA

FAH Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FAH	P16930	KRTAP13-3	Homo sapiens	Q3SY46	Validated Y2H	32296183
Intra	FAH	P16930	KRTAP13-3	Homo sapiens	Q3SY46	Y2H Array	32296183
Intra	FAH	P16930	KRTAP13-3	Homo sapiens	Q3SY46	Y2H Prey Pooling	32296183
Intra	FAH	P16930	CHRDL2	Homo sapiens	Q6WN34-2	Validated Y2H	32296183
Intra	FAH	P16930	CHRDL2	Homo sapiens	Q6WN34-2	Y2H Array	32296183
Intra	FAH	P16930	CHRDL2	Homo sapiens	Q6WN34-2	Y2H Prey Pooling	32296183
Intra	FAH	P16930	SERTAD1	Homo sapiens	Q53GC0	Validated Y2H	25416956
Intra	FAH	P16930	KRTAP5-9	Homo sapiens	P26371	Y2H Array	25416956
Intra	FAH	P16930	KRTAP5-9	Homo sapiens	P26371	Y2H Prey Pooling	25416956
Intra	FAH	P16930	TCF4	Homo sapiens	P15884	Validated Y2H	25416956
Intra	FAH	P16930	TCF4	Homo sapiens	P15884	Y2H Array	25416956
Intra	FAH	P16930	TCF4	Homo sapiens	P15884	Y2H Prey Pooling	25416956
Intra	FAH	P16930	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Array	32296183
Intra	FAH	P16930	PLEKHF2	Homo sapiens	Q9H8W4	Y2H Prey Pooling	32296183
Intra	FAH	P16930	PLEKHF2	Homo sapiens	Q9H8W4	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FAH Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70307	Fumarylacetoacetase/FAH Protein, Human (HEK293, His)	P16930-1 (S2-S419)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Tyrosinemia, Type I	Tyrosinemia Type I Hepatorenal Tyrosinemia Fumarylacetoacetase Deficiency Fah Deficiency TYRSN1 Fumarylacetoacetate Hydrolase Deficiency Tyrosinemia Type 1 Tyrosinemia 1 Fumarylacetoacetase
Tyrosinemia	Hypertyrosinemia Tyrosinemias Hereditary Tyrosinemia Hypertyrosinaemia Tyrosinaemia Hereditary Hypertyrosinemia
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Tyrosinemia, Type Ii	Tyrosinemia Type Ii Oculocutaneous Tyrosinemia Richner-Hanhart Syndrome Tyrosine Aminotransferase Deficiency Tat Deficiency Tyrosine Transaminase Deficiency Keratosis Palmoplantaris With Corneal Dystrophy TYRSN2 Oregon Type Tyrosinemia Tyrosinemia Type 2 Tyrosinosis Oculocutaneous Type Tyrosinosis, Oculocutaneous Type Richner Hanhart Syndrome Keratosis Palmoplantaris-Corneal Dystrophy Syndrome Tyrosinemia Due To Tat Deficiency Tyrosinemia Due To Tyrosine Aminotransferase Deficiency Tyrosinemia 2 Tyrosinemia Oregon Type Tyrosine Transaminase Deficiency Disease
Alkaptonuria	Homogentisic Acid Oxidase Deficiency Alcaptonuria AKU Deficiency Of Homogentisicase Homogentisate 1,2-Dioxygenase Deficiency Alkaptonuric Ochronosis Homogentisic Acidura Ochronosis, Hereditary Hereditary Ochronosis Ochronosis Homogentisicaciduria Deficiency Of Homogentisate Oxygenase
Tyrosinemia, Type Iii	Tyrosinemia Type Iii 4-Hydroxyphenylpyruvate Dioxygenase Deficiency TYRSN3 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency Tyrosinemia Type 3 4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency 4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency Tyrosinemia Due To 4-Hydroxyphenylpyruvate Dioxygenase Deficiency Tyrosinemia Due To 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency Tyrosinemia Due To Hpd Deficiency Tyrosinemia 3
Rickets	Vitamin D Deficiency Vitamin D Active Rickets Hypovitaminosis D Nutritional Rickets Vitamin D Deficiency Disease Vitamin-D Deficiency Rickets Vitamin D-Dependent Rickets Avitaminosis D Infantile Osteomalacia Juvenile Osteomalacia
Hawkinsinuria	4-Alpha-Hydroxyphenylpyruvate Hydroxylase Deficiency 4-Hppd Deficiency 4-Hydroxyphenylpyruvic Acid Dioxygenase Deficiency HWKS HAWK
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Fanconi-Like Syndrome	Fanconi Like Syndrome
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Liver Cirrhosis	Cirrhosis Cirrhosis Of Liver CIRRH Cryptogenic Cirrhosis Cirrhosis, Cryptogenic Cirrhosis Nos
Hypermethioninemia	Hepatic Methionine Adenosyltransferase Deficiency Deficiency Of Methionine Adenosyltransferase Glycine N-Methyltransferase Deficiency Met S-Adenosylhomocysteine Hydrolase Deficiency Gnmt Deficiency Mat Deficiency Methionine Adenosyltransferase Deficiency Methioninemia Deficiency Of Acetyl-Coa Acetyltransferase
Crigler-Najjar Syndrome, Type I	Crigler-Najjar Syndrome Crigler-Najjar Syndrome Type 1 Bilirubin Udp Glucuronyl Transferase Deficiency Crigler Najjar Syndrome Crigler Najjar Syndrome, Type 1 Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Bilirubin-Ugt Deficiency Hyperbilirubinemia, Crigler-Najjar Type I Hblrcn1 Familial Nonhemolytic Unconjugated Hyperbilirubinemia Hereditary Unconjugated Hyperbilirubinemia Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1 Bilirubin-Ugt Deficiency Type 1 Crigler-Najjar Syndrome 1 CN1 Cn-I Crigler-Najjar Syndrome Type I Hereditary Unconjugated Hyperbilirubinaemia Ugt Deficiency Bilirubin Glucuronosyltransferase Deficiency Crigler-Najjar Disease Or Syndrome Deficiency Of Glucuronosyltransferase Glucuronyl Transferase Deficiency Glucuronyltransferase Deficiency Udp Glucuronyl Transferase Deficiency Cns - [Crigler-Najjar Syndrome] Congenital Familial Nonhemolytic Jaundice
Abdominal Obesity-Metabolic Syndrome 1	Metabolic Syndrome X Metabolic Syndrome AOMS1 Dysmetabolic Syndrome X Metabolic Disease Abdominal Obesity Metabolic Syndrome
Ochronosis
Citrullinemia, Type Ii, Adult-Onset	Citrin Deficiency CTLN2 Citrullinemia Type Ii Adult-Onset Citrullinemia Type 2 Adult-Onset Type Ii Citrullinemia Citrullinemia, Adult-Onset Type Ii Adult-Onset Citrin Deficiency Adult-Onset Citrullinemia Type Ii Citrullinemia Type 2 Citrullinemia 2 Citrullinemia, Type Ii
Urea Cycle Disorder	Urea Cycle Disorders Urea Cycle Disorders, Inborn Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Disorder Of Urea Cycle Metabolism Urea Cycle Defect Ucd Disorder Of The Urea Cycle Metabolism Disorder Of Urea Cycle Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia Ammonia Metabolic Disorder
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Ornithine Carbamoyltransferase Deficiency Ornithine Transcarbamylase Deficiency Otc Deficiency Ornithine Carbamoyltransferase Deficiency Disease OTCD Deficiency Of Citrulline Phosphorylase Oct Deficiency Hyperammonemia Due To Ornithine Carbamoyltransferase Deficiency Deficiency, Ornithine Carbamoyltransferase
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Citrullinemia, Classic	Citrullinemia Classic Citrullinemia Argininosuccinate Synthetase Deficiency Ass Deficiency Citrullinemia Type I CTLN1 Citrullinuria Citrullinemia, Type I Argininosuccinic Acid Synthetase Deficiency Ctnl1 Citrullinemia 1 Deficiency Of Citrulline-Aspartate Ligase Cit Argininosuccinate Synthase Deficiency Argininosuccinic Acid Synthase Deficiency Citrullinemia Type 1 Citrullinemia Classical
Fanconi Syndrome	Infantile Nephropathic Cystinosis Adult Fanconi Syndrome Congenital Fanconi Syndrome De Toni-Fanconi Syndrome Fanconi-De Toni Syndrome Lignac-Fanconi Syndrome Fanconi Renotubular Syndrome Primary Fanconi Renotubular Syndrome De Toni-Debre-Fanconi Syndrome Adult Fanconi Anemia Detoni Fanconi Syndrome Fanconi-De-Toni Syndrome Primary Fanconi Syndrome Detoni-Debre-Fanconi Syndrome Primary Fanconi Renal Syndrome Fanconi Anemia Cystinosis, Infantile Nephropathic Fanconi-Bickel Syndrome Renal Fanconi Syndrome Lowe-Bickel Syndrome
Bilirubin Metabolic Disorder	Hyperbilirubinemia Hereditary Hyperbilirubinemia Hyperbilirubinemia, Hereditary Hyperbilirubinaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04672	FAH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04732	FANCA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17867	Fah Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24336	Fah Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	FAH	VGNC	VGNC:62042
Canis familiaris	FAH	VGNC	VGNC:40569
Rattus norvegicus	FAH	RGD	RGD:61932
Bos taurus	FAH	VGNC	VGNC:28707
Mus musculus	FAH	MGD	MGI:95482
Others	FAH	NCBI