Details for: FAH

Gene ID: 2184

Symbol: FAH

Ensembl ID: ENSG00000103876

Description: fumarylacetoacetate hydrolase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.39
    Marker Score: 12157
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 1.38
    Marker Score: 1667
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.31
    Marker Score: 1371
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.25
    Marker Score: 4451
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.25
    Marker Score: 2937
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.25
    Marker Score: 934
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.17
    Marker Score: 795
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 1.11
    Marker Score: 6738
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.11
    Marker Score: 4530
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.08
    Marker Score: 593
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 1.04
    Marker Score: 433
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.03
    Marker Score: 4448
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 1.01
    Marker Score: 1151
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71773
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47998
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30403
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.97
    Marker Score: 703
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.97
    Marker Score: 5215
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.96
    Marker Score: 3779
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.96
    Marker Score: 1543
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 491
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2406
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 446
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.92
    Marker Score: 1604
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.92
    Marker Score: 14325
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2735
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.91
    Marker Score: 5830.5
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.87
    Marker Score: 4992
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5294
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 314
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.82
    Marker Score: 730
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 0.78
    Marker Score: 319
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.78
    Marker Score: 387
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.78
    Marker Score: 249
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.76
    Marker Score: 700
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.76
    Marker Score: 400.5
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 304
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.75
    Marker Score: 2904
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.75
    Marker Score: 1526
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.75
    Marker Score: 572.5
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.74
    Marker Score: 4826
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.74
    Marker Score: 383
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.73
    Marker Score: 9767
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.72
    Marker Score: 654
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.71
    Marker Score: 351
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7
    Marker Score: 2918
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.69
    Marker Score: 17683.5
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.69
    Marker Score: 222
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.69
    Marker Score: 1140
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.68
    Marker Score: 434.5
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.68
    Marker Score: 249
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.68
    Marker Score: 717
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.68
    Marker Score: 451.5
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.67
    Marker Score: 1068
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.65
    Marker Score: 364.5
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.65
    Marker Score: 1543
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.65
    Marker Score: 227
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.64
    Marker Score: 182
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.62
    Marker Score: 3972
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.6
    Marker Score: 323
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.6
    Marker Score: 1134
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.6
    Marker Score: 407
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.59
    Marker Score: 287
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.58
    Marker Score: 861
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.58
    Marker Score: 572.5
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.57
    Marker Score: 4888
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.57
    Marker Score: 312
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.57
    Marker Score: 132.5
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.56
    Marker Score: 6332
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.56
    Marker Score: 618
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.56
    Marker Score: 1819
  • Cell Name: basophil (CL0000767)
    Fold Change: 0.55
    Marker Score: 262
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 437
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.55
    Marker Score: 273
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.54
    Marker Score: 136
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.54
    Marker Score: 2590
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.53
    Marker Score: 221
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.52
    Marker Score: 185
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.52
    Marker Score: 1080
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.52
    Marker Score: 2229
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.5
    Marker Score: 772
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.5
    Marker Score: 216.5
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5
    Marker Score: 318
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.5
    Marker Score: 879
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.49
    Marker Score: 328
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.49
    Marker Score: 704
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.49
    Marker Score: 129
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.48
    Marker Score: 216
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.47
    Marker Score: 115
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.47
    Marker Score: 10047
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.47
    Marker Score: 498
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.47
    Marker Score: 281
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.47
    Marker Score: 123
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.46
    Marker Score: 484
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.45
    Marker Score: 280
  • Cell Name: cord blood hematopoietic stem cell (CL2000095)
    Fold Change: 0.44
    Marker Score: 333
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.44
    Marker Score: 258
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.44
    Marker Score: 1200

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Other Information

## Summary Fumarylacetoacetate hydrolase (FAH) is an enzyme involved in the metabolism of phenylalanine, a precursor of the aromatic amino acid tyrosine. It plays a crucial role in human health by participating in multiple pathways, including the argininosuccinic acid (ArSA) catabolic process and the phenylalanine catabolic process. ## Key characteristics * FAH is a protein with a molecular weight of approximately 80 kDa. * It is found in various cells throughout the body, including lung endothelial cells, myeloid leukocytes, erythroid progenitor cells, epithelial cells of the proximal tubule, kidney proximal straight tubule epithelial cell, primitive red blood cells, proerythroblast, elicited macrophages, pro-T cell, and Hofbauer cells. * It is a glycoprotein that is expressed at high levels in the liver and other tissues involved in metabolism. ## Pathways and functions * **Argininosuccinic acid catabolic process:** FAH is a key enzyme in the ArSA catabolic process, which is responsible for the catabolism of argininosuccinic acid, an intermediate in the synthesis of carnitine. * **Phenylalanine catabolic process:** FAH is also involved in the phenylalanine catabolic process, which is responsible for the catabolism of phenylalanine to produce tyrosine. ## Clinical significance * Mutations in the FAH gene have been linked to several human diseases, including phenylketonuria, a disorder characterized by the accumulation of phenylalanine in the blood. * FAH inhibitors are being investigated as potential therapeutic agents for treating these disorders by reducing the levels of phenylalanine in the blood.

Genular Protein ID: 171686936

Symbol: FAAA_HUMAN

Name: Fumarylacetoacetase

UniProtKB Accession Codes:

P16930 B2R9X1 D3DW95 Q53XA7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 14 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 EC 1 EMBL 9 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 9 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1998338

Title: 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

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2336361

Title: Nucleotide sequence of cDNA encoding human fumarylacetoacetase.

PubMed ID: 2336361

DOI: 10.1093/nar/18.7.1887

PubMed ID: 9101289

Title: Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.

PubMed ID: 9101289

DOI: 10.1002/(sici)1098-1004(1997)9:4<291::aid-humu1>3.0.co;2-9

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 1401056

Title: Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

PubMed ID: 1401056

DOI: 10.1172/jci115979

PubMed ID: 8364576

Title: Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.

PubMed ID: 8364576

DOI: 10.1093/hmg/2.7.941

PubMed ID: 8318997

Title: Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.

PubMed ID: 8318997

DOI: 10.1002/humu.1380020205

PubMed ID: 7942842

Title: Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.

PubMed ID: 7942842

PubMed ID: 7977370

Title: Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

PubMed ID: 7977370

PubMed ID: 8005583

Title: Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.

PubMed ID: 8005583

DOI: 10.1007/bf00201558

PubMed ID: 7757089

Title: Two novel mutations involved in hereditary tyrosinemia type I.

PubMed ID: 7757089

DOI: 10.1093/hmg/4.2.319

PubMed ID: 7550234

Title: Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.

PubMed ID: 7550234

DOI: 10.1002/humu.1380060113

PubMed ID: 8557261

Title: 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

DOI: 10.1007/bf00218833

PubMed ID: 9633815

Title: Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.

PubMed ID: 9633815

DOI: 10.1002/(sici)1098-1004(1998)12:1<19::aid-humu3>3.0.co;2-3

PubMed ID: 11196105

Title: Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.

PubMed ID: 11196105

DOI: 10.1023/a:1026756501669

PubMed ID: 11476670

Title: A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

PubMed ID: 11476670

DOI: 10.1186/1471-2156-2-9

PubMed ID: 11278491

Title: Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

PubMed ID: 11278491

DOI: 10.1074/jbc.m009341200

PubMed ID: 20003495

Title: A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report.

PubMed ID: 20003495

DOI: 10.1186/1750-1172-4-28

PubMed ID: 27535533

Title: Analysis of protein-coding genetic variation in 60,706 humans.

PubMed ID: 27535533

DOI: 10.1038/nature19057

Sequence Information:

  • Length: 419
  • Mass: 46374
  • Checksum: 12EA8D8074C55BB2
  • Sequence:
    • MSFIPVAEDS DFPIHNLPYG VFSTRGDPRP RIGVAIGDQI LDLSIIKHLF TGPVLSKHQD 
VFNQPTLNSF MGLGQAAWKE ARVFLQNLLS VSQARLRDDT ELRKCAFISQ ASATMHLPAT 
IGDYTDFYSS RQHATNVGIM FRDKENALMP NWLHLPVGYH GRASSVVVSG TPIRRPMGQM 
KPDDSKPPVY GACKLLDMEL EMAFFVGPGN RLGEPIPISK AHEHIFGMVL MNDWSARDIQ 
KWEYVPLGPF LGKSFGTTVS PWVVPMDALM PFAVPNPKQD PRPLPYLCHD EPYTFDINLS 
VNLKGEGMSQ AATICKSNFK YMYWTMLQQL THHSVNGCNL RPGDLLASGT ISGPEPENFG 
SMLELSWKGT KPIDLGNGQT RKFLLDGDEV IITGYCQGDG YRIGFGQCAG KVLPALLPS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.