Details for: FAH

Gene ID: 2184

Symbol: FAH

Ensembl ID: ENSG00000103876

Description: fumarylacetoacetate hydrolase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 46.2245
    Cell Significance Index: -7.1900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 28.0012
    Cell Significance Index: -13.2200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 26.4611
    Cell Significance Index: -10.7500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 17.5049
    Cell Significance Index: -4.4400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 12.1080
    Cell Significance Index: -11.5600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 8.8081
    Cell Significance Index: -10.8600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.5542
    Cell Significance Index: -12.2000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.9954
    Cell Significance Index: -11.8200
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.3277
    Cell Significance Index: 37.3500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.8172
    Cell Significance Index: 345.8200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.7779
    Cell Significance Index: 45.4200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.7376
    Cell Significance Index: 90.5100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 1.4591
    Cell Significance Index: 39.0300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.1332
    Cell Significance Index: 112.1000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.0440
    Cell Significance Index: 27.9800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.9565
    Cell Significance Index: 57.4200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8235
    Cell Significance Index: 743.5200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7796
    Cell Significance Index: 84.8000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.6538
    Cell Significance Index: 76.1900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6081
    Cell Significance Index: 98.9100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.5438
    Cell Significance Index: 7.4200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5391
    Cell Significance Index: 106.9800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.5258
    Cell Significance Index: 39.1900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5148
    Cell Significance Index: 26.7400
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: 0.4402
    Cell Significance Index: 2.8100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.4127
    Cell Significance Index: 12.1200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.4111
    Cell Significance Index: 6.9300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4040
    Cell Significance Index: 27.9400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.3439
    Cell Significance Index: 10.1300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.3181
    Cell Significance Index: 2.5400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3087
    Cell Significance Index: 14.5100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2984
    Cell Significance Index: 40.9800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2903
    Cell Significance Index: 8.3700
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.2830
    Cell Significance Index: 4.7600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2261
    Cell Significance Index: 6.1600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2045
    Cell Significance Index: 111.7000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1979
    Cell Significance Index: 8.9700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1521
    Cell Significance Index: 105.2200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1424
    Cell Significance Index: 6.6400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1292
    Cell Significance Index: 2.8000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1266
    Cell Significance Index: 16.3500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1261
    Cell Significance Index: 8.9200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1200
    Cell Significance Index: 14.7600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1127
    Cell Significance Index: 2.4000
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.1107
    Cell Significance Index: 0.6800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1080
    Cell Significance Index: 19.4700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0963
    Cell Significance Index: 12.3500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0948
    Cell Significance Index: 2.6500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0868
    Cell Significance Index: 2.7800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0752
    Cell Significance Index: 33.2500
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.0616
    Cell Significance Index: 0.6700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0523
    Cell Significance Index: 18.7700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0483
    Cell Significance Index: 1.2900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0377
    Cell Significance Index: 28.5400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0316
    Cell Significance Index: 0.7900
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.0245
    Cell Significance Index: 0.2000
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.0227
    Cell Significance Index: 0.1400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0165
    Cell Significance Index: 1.2700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0162
    Cell Significance Index: 0.5700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0114
    Cell Significance Index: 20.9600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0107
    Cell Significance Index: 20.1600
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: 0.0092
    Cell Significance Index: 0.0400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0082
    Cell Significance Index: 0.0900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0072
    Cell Significance Index: 11.0700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0057
    Cell Significance Index: 7.7800
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.0044
    Cell Significance Index: 0.1000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0030
    Cell Significance Index: 0.3100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0007
    Cell Significance Index: 0.0100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0002
    Cell Significance Index: 0.1800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0018
    Cell Significance Index: -0.3500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0084
    Cell Significance Index: -0.1400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0099
    Cell Significance Index: -6.2700
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0115
    Cell Significance Index: -0.1700
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0155
    Cell Significance Index: -0.2200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0156
    Cell Significance Index: -11.5400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0231
    Cell Significance Index: -13.0100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0242
    Cell Significance Index: -15.1200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0248
    Cell Significance Index: -11.2500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0288
    Cell Significance Index: -4.9100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0321
    Cell Significance Index: -4.6700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0329
    Cell Significance Index: -9.4800
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.0347
    Cell Significance Index: -0.2700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0519
    Cell Significance Index: -1.3700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0580
    Cell Significance Index: -6.8400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0590
    Cell Significance Index: -6.7700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0667
    Cell Significance Index: -4.3000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0720
    Cell Significance Index: -15.1600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0795
    Cell Significance Index: -6.3000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0879
    Cell Significance Index: -1.8400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1025
    Cell Significance Index: -10.6700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1112
    Cell Significance Index: -5.8400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1381
    Cell Significance Index: -4.8000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1540
    Cell Significance Index: -9.4400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1557
    Cell Significance Index: -10.4700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1642
    Cell Significance Index: -4.2200
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.1671
    Cell Significance Index: -2.1400
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.1675
    Cell Significance Index: -2.4000
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.1677
    Cell Significance Index: -3.1000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1838
    Cell Significance Index: -2.7700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2083
    Cell Significance Index: -5.9700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** FAH is a metallohydrolase enzyme that belongs to the pyridoxal phosphate-dependent enzyme family. It is primarily expressed in the liver, kidneys, and proximal tubules of the kidney, where it plays a critical role in the degradation of phenylalanine and tyrosine. FAH is a tetrameric enzyme composed of four identical subunits, each containing a heme cofactor. The enzyme catalyzes the hydrolysis of fumarylacetoacetate, a toxic intermediate generated during the catabolism of phenylalanine and tyrosine. **Pathways and Functions:** FAH is involved in the catabolic pathways of phenylalanine and tyrosine, which are essential amino acids in human nutrition. The enzyme catalyzes the following reactions: 1. Fumarylacetoacetate hydrolysis: FAH hydrolyzes fumarylacetoacetate, a toxic intermediate, into fumarylacetate and acetoacetate. 2. Tyrosine catabolism: FAH is involved in the degradation of tyrosine, a precursor to neurotransmitters such as dopamine, norepinephrine, and epinephrine. 3. Phenylalanine catabolism: FAH is also involved in the degradation of phenylalanine, an essential amino acid that is converted to tyrosine through a series of reactions. **Clinical Significance:** Deficiencies in FAH have been associated with a range of clinical disorders, including tyrosinemia type 1, a severe and often fatal genetic disease. Tyrosinemia type 1 is characterized by elevated levels of phenylalanine and tyrosine in the blood, which can lead to liver and kidney damage, as well as neurological symptoms. Other clinical disorders associated with FAH deficiencies include: 1. Tyrosinemia type 2: A milder form of tyrosinemia type 1, characterized by elevated levels of phenylalanine and tyrosine, but with less severe symptoms. 2. Tyrosinemia type 3: A rare form of tyrosinemia type 1, characterized by severe symptoms and a poor prognosis. 3. Tyrosinemia-associated nephropathy: A kidney disease associated with FAH deficiencies, characterized by proteinuria and renal failure. **Conclusion:** Fumarylacetoacetate hydrolase (FAH) is a critical enzyme involved in the catabolism of phenylalanine and tyrosine. Deficiencies in FAH have been associated with a range of clinical disorders, including tyrosinemia type 1, a severe and often fatal genetic disease. Understanding the key characteristics, pathways, and functions of FAH is essential for the diagnosis and treatment of these disorders.

Genular Protein ID: 171686936

Symbol: FAAA_HUMAN

Name: Fumarylacetoacetase

UniProtKB Accession Codes:

Database IDs:

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.