The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on ch... See more...

Aliases for FECH Gene

Aliases for FECH Gene

  • Ferrochelatase 2 3 5
  • Ferrochelatase, Mitochondrial 3 4
  • Protoheme Ferro-Lyase 3 4
  • Protoporphyria 2 3
  • Heme Synthase 3 4
  • EC 4 50
  • Ferrochelatase (Protoporphyria) 2
  • Heme Synthetase 3
  • EPP1 3
  • FECH 5
  • EPP 3
  • FCE 3

External Ids for FECH Gene

Previous GeneCards Identifiers for FECH Gene

  • GC18P055578
  • GC18M055191
  • GC18M055001
  • GC18M053365
  • GC18M053367
  • GC18M051922

Summaries for FECH Gene

Entrez Gene Summary for FECH Gene

  • The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010]

GeneCards Summary for FECH Gene

FECH (Ferrochelatase) is a Protein Coding gene. Diseases associated with FECH include Protoporphyria, Erythropoietic, 1 and Erythropoietic Protoporphyria, Autosomal Recessive. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and 2 iron, 2 sulfur cluster binding.

UniProtKB/Swiss-Prot Summary for FECH Gene

Gene Wiki entry for FECH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FECH Gene

Genomics for FECH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FECH Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J057584 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 258.4 +0.4 407 3 ZNF207 SSRP1 ZNF592 POLR2A ZIC2 ZBTB10 NONO CTCF SIN3A TBP FECH lnc-NARS-2 NARS1 HSALNG0121772 ONECUT2
GH18J057588 Enhancer 0.8 FANTOM5 257.3 -1.8 -1798 0.2 NCOR1 ZNF592 NFIC TAL1 ZNF316 PRDM10 STAT5A SMARCA4 HDAC2 MAFG FECH HSALNG0121774 lnc-NARS-2 lnc-ONECUT2-4 ENSG00000278703 NARS1
GH18J057587 Enhancer 0.3 dbSUPER 250.7 -1.2 -1181 0.1 CBX3 FECH HSALNG0121774 lnc-NARS-2 lnc-ONECUT2-4 NARS1
GH18J057629 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 11.7 -44.0 -44040 2.4 BCLAF1 ZNF654 ZNF207 IKZF1 MYC SIX5 JUND ZNF580 ZNF592 ZMYM3 HSALNG0121779 LOC100505549 lnc-NARS-3 piR-31162-218 piR-31432-308 piR-45471-281 piR-49732-264 piR-46662-309 piR-56759-254 piR-61028-269
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FECH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FECH

Top Transcription factor binding sites by QIAGEN in the FECH gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • Brachyury
  • c-Myc
  • C/EBPalpha
  • HNF-1
  • HNF-1A
  • HOXA3
  • Max

Genomic Locations for FECH Gene

Latest Assembly
42,332 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
42,326 bases
Minus strand

(GRCh37/hg19 by Ensembl)
38,490 bases
Minus strand

Genomic View for FECH Gene

Genes around FECH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FECH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FECH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FECH Gene

Proteins for FECH Gene

  • Protein details for FECH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ferrochelatase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • A8KA72
    • Q8IXN1
    • Q8NAN0

    Protein attributes for FECH Gene

    423 amino acids
    Molecular mass:
    47862 Da
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601;
    Quaternary structure:
    • Homodimer (PubMed:17261801). Interacts with PGRMC1; the interaction results in decreased FECH activity (PubMed:27599036).

    Three dimensional structures from OCA and Proteopedia for FECH Gene

    Alternative splice isoforms for FECH Gene


neXtProt entry for FECH Gene

Selected DME Specific Peptides for FECH Gene


Post-translational modifications for FECH Gene

  • Ubiquitination at Lys57 and Lys106
  • Modification sites at PhosphoSitePlus

Domains & Families for FECH Gene

Gene Families for FECH Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for FECH Gene

Suggested Antigen Peptide Sequences for FECH Gene

GenScript: Design optimal peptide antigens:
  • Protoheme ferro-lyase (HEMH_HUMAN)
  • Ferrochelatase (Q8TD50_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ferrochelatase family.
  • Belongs to the ferrochelatase family.
genes like me logo Genes that share domains with FECH: view

Function for FECH Gene

Molecular function for FECH Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the ferrous insertion into protoporphyrin IX.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 H(+) + heme b = Fe(2+) + protoporphyrin IX; Xref=Rhea:RHEA:22584, ChEBI:CHEBI:15378, ChEBI:CHEBI:29033, ChEBI:CHEBI:57306, ChEBI:CHEBI:60344; EC=; Evidence={ECO:0000269|PubMed:27599036, ECO:0000269|PubMed:8276824};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by nitric oxide (NO). The 2Fe-2S cluster could act as a NO sensor.
GENATLAS Biochemistry:
ferrochelatase,inner mitochondrial membrane,catalyzing heme formation,from protoporphyrin

Enzyme Numbers (IUBMB) for FECH Gene

Phenotypes From GWAS Catalog for FECH Gene

Gene Ontology (GO) - Molecular Function for FECH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004325 ferrochelatase activity IEA,IDA 8973195
GO:0005515 protein binding IPI 15123683
GO:0008198 ferrous iron binding TAS 1729699
GO:0016829 lyase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FECH: view
genes like me logo Genes that share phenotypes with FECH: view

Human Phenotype Ontology for FECH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FECH Gene

MGI Knock Outs for FECH:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FECH

No data available for Transcription Factor Targets and HOMER Transcription for FECH Gene

Localization for FECH Gene

Subcellular locations from UniProtKB/Swiss-Prot for FECH Gene

Mitochondrion inner membrane. Peripheral membrane protein. Matrix side.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FECH gene
Compartment Confidence
mitochondrion 5
cytosol 3
plasma membrane 2
extracellular 2
nucleus 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FECH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
GO:0005743 mitochondrial inner membrane IEA,ISS --
GO:0005759 mitochondrial matrix TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with FECH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FECH Gene

Pathways & Interactions for FECH Gene

genes like me logo Genes that share pathways with FECH: view

UniProtKB/Swiss-Prot P22830-HEMH_HUMAN

  • Pathway: Porphyrin-containing compound metabolism; protoheme biosynthesis; protoheme from protoporphyrin-IX: step 1/1.

Gene Ontology (GO) - Biological Process for FECH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS 1729699
GO:0006779 porphyrin-containing compound biosynthetic process IEA --
GO:0006783 heme biosynthetic process IEA,TAS --
GO:0009416 response to light stimulus TAS 1376018
GO:0010038 response to metal ion IEA --
genes like me logo Genes that share ontologies with FECH: view

No data available for SIGNOR curated interactions for FECH Gene

Drugs & Compounds for FECH Gene

(22) Drugs for FECH Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholic acid Approved Pharma Target 0
Fe2+ Experimental Pharma 0
Protoporphyrin IX Experimental Pharma 25
heme Pharma 0

(18) Additional Compounds for FECH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Formyl coenzyme A
  • Formyl-coenzyme A
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
genes like me logo Genes that share compounds with FECH: view

Transcripts for FECH Gene

mRNA/cDNA for FECH Gene

15 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FECH

Alternative Splicing Database (ASD) splice patterns (SP) for FECH Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - -
SP5: -

Relevant External Links for FECH Gene

GeneLoc Exon Structure for

Expression for FECH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FECH Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FECH Gene

Protein tissue co-expression partners for FECH Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FECH

SOURCE GeneReport for Unigene cluster for FECH Gene:


Evidence on tissue expression from TISSUES for FECH Gene

  • Liver(4.6)
  • Nervous system(3.8)
  • Bone marrow(2.8)
  • Heart(2.6)
  • Kidney(2.6)
  • Blood(2.4)
  • Muscle(2.4)
  • Intestine(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FECH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
Head and neck:
  • ear
  • heart
  • abdominal wall
  • biliary tract
  • duodenum
  • gallbladder
  • intestine
  • liver
  • pancreas
  • small intestine
  • blood
  • blood vessel
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with FECH: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FECH Gene

Orthologs for FECH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FECH Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FECH 29 30
  • 99.37 (n)
(Ornithorhynchus anatinus)
Mammalia FECH 30
  • 92 (a)
(Canis familiaris)
Mammalia FECH 29 30
  • 88.95 (n)
(Rattus norvegicus)
Mammalia Fech 29
  • 87.28 (n)
(Mus musculus)
Mammalia Fech 29 16 30
  • 86.9 (n)
(Bos Taurus)
Mammalia FECH 29 30
  • 86.14 (n)
(Monodelphis domestica)
Mammalia -- 30
  • 84 (a)
-- 30
  • 79 (a)
(Gallus gallus)
Aves FECH 29 30
  • 76.76 (n)
(Anolis carolinensis)
Reptilia FECH 30
  • 82 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fech 29
  • 75.46 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398014 29
(Danio rerio)
Actinopterygii fech 29 30
  • 72.39 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta ferrochelatase 29 30 31
  • 59.23 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003719 29
  • 59.04 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR272W 29
  • 55.92 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM15 29 30 32
  • 55.13 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F20141g 29
  • 54.73 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons FC2 29
  • 49.79 (n)
(Oryza sativa)
Liliopsida Os05g0361200 29
  • 49.15 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU08291 29
  • 58.26 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hem15 29
  • 52.23 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8424 29
Species where no ortholog for FECH was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FECH Gene

Gene Tree for FECH (if available)
Gene Tree for FECH (if available)
Evolutionary constrained regions (ECRs) for FECH: view image
Alliance of Genome Resources:
Additional Orthologs for FECH

Paralogs for FECH Gene

(1) SIMAP similar genes for FECH Gene using alignment to 7 proteins:

  • Q8TD50_HUMAN Pseudogenes for FECH Gene

genes like me logo Genes that share paralogs with FECH: view

No data available for Paralogs for FECH Gene

Variants for FECH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FECH Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
1002019 Uncertain Significance: not provided 57,586,606(-) GC/TT
NM_000140.5(FECH):c.14_15delinsAA (p.Gly5Glu)
1012439 Pathogenic: not provided 57,580,092(-) G/A
NM_000140.5(FECH):c.175C>T (p.Gln59Ter)
1029666 Uncertain Significance: Protoporphyria, erythropoietic, 1 57,554,378(-) T/C
NM_000140.5(FECH):c.959A>G (p.Lys320Arg)
890412 Uncertain Significance: Protoporphyria, erythropoietic, 1 57,566,585(-) T/C
892152 Uncertain Significance: Protoporphyria, erythropoietic, 1 57,551,380(-) T/C

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FECH Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FECH Gene

Variant ID Type Subtype PubMed ID
esv2751777 CNV gain 17911159
nsv1116276 CNV deletion 24896259
nsv458086 CNV gain 19166990
nsv577032 CNV gain 21841781
nsv833663 CNV gain 17160897

Variation tolerance for FECH Gene

Residual Variation Intolerance Score: 46.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.58; 65.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FECH Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FECH Gene

Disorders for FECH Gene

MalaCards: The human disease database

(30) MalaCards diseases for FECH Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search FECH in MalaCards View complete list of genes associated with diseases


  • Protoporphyria, erythropoietic, 1 (EPP1) [MIM:177000]: An autosomal recessive form of porphyria with onset usually before age 10 years. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Erythropoietic protoporphyria is marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals. {ECO:0000269 PubMed:10942404, ECO:0000269 PubMed:11375302, ECO:0000269 PubMed:12063482, ECO:0000269 PubMed:12601550, ECO:0000269 PubMed:1376018, ECO:0000269 PubMed:15286165, ECO:0000269 PubMed:17196862, ECO:0000269 PubMed:1755842, ECO:0000269 PubMed:7910885, ECO:0000269 PubMed:8757534, ECO:0000269 PubMed:9211198, ECO:0000269 PubMed:9585598, ECO:0000269 PubMed:9740232}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for FECH

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FECH: view

No data available for Genatlas for FECH Gene

Publications for FECH Gene

  1. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. (PMID: 16385445) Gouya L … Deybach JC (American journal of human genetics 2006) 3 22 40 72
  2. Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. (PMID: 18787536) Holme SA … Badminton MN (The Journal of investigative dermatology 2009) 3 22 72
  3. Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria. (PMID: 17196862) Aurizi C … Biolcati G (Molecular genetics and metabolism 2007) 3 4 22
  4. Substrate interactions with human ferrochelatase. (PMID: 17261801) Medlock A … Lanzilotta WN (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 22
  5. Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria. (PMID: 12601550) Wiman A … Harper P (Journal of human genetics 2003) 3 4 22

Products for FECH Gene

Sources for FECH Gene