1. Gene
  2. FAH - fumarylacetoacetate hydrolase Gene

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
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference 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_N: Fumarylacetoacetase N-terminal (15 - 118)

FAA_hydrolase

FAA_hydrolase: Fumarylacetoacetate (FAA) hydrolase family (124 - 412)

  • 0
  • 100
  • 200
  • 300
  • 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 Reference
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%

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

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