FAH - fumarylacetoacetate hydrolase Gene

Homo sapiens

Gene ID: 2184 | Gene type: protein coding

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

FAH Protein Structure

FAA_hydrolase_N

FAA_hydrolase

0
100
200
300
419 a.a.

Protein Preferred Names

Protein Names

fumarylacetoacetase

FAA

Recombinant FAH Proteins

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04672	FAH Human Pre-designed siRNA Set A		/	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