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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
External Ids for FECH Gene
- HGNC: 3647
- Entrez Gene: 2235
- Ensembl: ENSG00000066926
- OMIM: 612386
- UniProtKB: P22830
Previous GeneCards Identifiers for FECH Gene
- GC18P055578
- GC18M055191
- GC18M055001
- GC18M053365
- GC18M053367
- GC18M051922
Summaries 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 Keratolytic Winter Erythema. Among its related pathways are Porphyrin and chlorophyll metabolism and 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
-
Catalyzes the ferrous insertion into protoporphyrin IX.
Additional gene information for FECH Gene
- HGNC(3647)
- Entrez Gene(2235)
- Ensembl(ENSG00000066926)
- OMIM(612386)
- UniProtKB(P22830)
- Open Targets Platform(ENSG00000066926)
- Monarch Initiative
- Search for FECH at DataMed
- Search for FECH at HumanCyc
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
- 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
Genomic Locations for FECH Gene
- chr18:57,544,377-57,586,708
- (GRCh38/hg38)
- Size:
- 42,332 bases
- Orientation:
- Minus strand
- chr18:55,212,073-55,254,004
- (GRCh37/hg19)
- Size:
- 41,932 bases
- Orientation:
- Minus strand
Genomic View for FECH Gene
Genes around FECH on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q21.31 by HGNC
- 18q21.31 by Entrez Gene
- 18q21.31 by Ensembl
FECH Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FECH Gene
Proteins for FECH Gene
-
Protein details for FECH Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P22830-HEMH_HUMAN
- Recommended name:
- Ferrochelatase, mitochondrial
- Protein Accession:
- P22830
- A8KA72
- Q8IXN1
- Q8NAN0
Protein attributes for FECH Gene
- Size:
- 423 amino acids
- Molecular mass:
- 47862 Da
- Cofactor:
- 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
Protein Expression for FECH Gene
Selected DME Specific Peptides for FECH Gene
- P22830:
-
- TAPHKYYIGFRYV
- SDHIETL
- FLLRLFLD
- QGEGMVKLLD
- NPYRLVWQS
- AFTQYPQYSCSTTGSSLNAIYRYYN
- GDPYPQEV
- ESLNGNPLFSKALADLV
- FSAHSLP
Post-translational modifications for FECH Gene
Other Protein References for FECH Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences FECH / Ferrochelatase Antibody
- G Biosciences Immunotag™ FECH Antibody
- Novus Biologicals Antibodies for FECH
-
Abcam antibodies for FECH
- Invitrogen Antibodies for FECH (AFLGC-FECH)
-
Boster Bio Antibodies for FECH
-
Santa Cruz Biotechnology (SCBT) Antibodies for FECH
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for FECH
- Origene Custom Protein Services for FECH
-
Signalway Proteins for FECH
-
Abcam proteins for FECH
Assay Products
-
Signalway ELISA kits for FECH
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
- InterPro:
- Blocks:
-
- Ferrochelatase
- ProtoNet:
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
P22830- Family:
-
- Belongs to the ferrochelatase family.
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=4.99.1.1; 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
| 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 | -- |
Phenotypes for FECH Gene
- MGI mutant phenotypes for FECH:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for FECH:
Animal Models for FECH Gene
- MGI Knock Outs for FECH:
-
- Fech Fech<tm1Dab>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FECH - Select products 50% OFF >
- * FECH CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FECH
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FECH
-
Santa Cruz Biotechnology (SCBT) CRISPR for FECH
miRNA for FECH Gene
- miRTarBase miRNAs that target FECH
-
- mmu-miR-122-5p (MIRT013531)
- hsa-miR-124-3p (MIRT022695)
- hsa-miR-1301-3p (MIRT036042)
- hsa-miR-25-3p (MIRT050277)
- hsa-miR-16-5p (MIRT051219)
- rno-miR-210-3p (MIRT053280)
- mmu-miR-669f-3p (MIRT578826)
- mmu-miR-466n-3p (MIRT578827)
- mmu-miR-669m-3p (MIRT578828)
- mmu-miR-466a-3p (MIRT578829)
- mmu-miR-467g (MIRT578830)
- mmu-miR-297b-3p (MIRT578831)
- mmu-miR-466e-3p (MIRT578832)
- mmu-miR-466d-3p (MIRT578833)
- mmu-miR-466k (MIRT578834)
- mmu-miR-466l-5p (MIRT578835)
- mmu-miR-466d-5p (MIRT578836)
- mmu-miR-466i-5p (MIRT578837)
- mmu-miR-467f (MIRT587199)
- mmu-miR-466f-3p (MIRT587200)
- mmu-miR-466i-3p (MIRT587201)
- mmu-miR-362-3p (MIRT587202)
- mmu-miR-329-3p (MIRT587203)
- hsa-miR-4668-5p (MIRT626824)
- hsa-miR-6812-3p (MIRT626825)
- hsa-miR-25-5p (MIRT764219)
- hsa-miR-377-5p (MIRT767389)
- hsa-miR-4537 (MIRT770148)
- hsa-miR-455-3p (MIRT770315)
- hsa-miR-6086 (MIRT775520)
- hsa-miR-6087 (MIRT775660)
- hsa-miR-6499-3p (MIRT776253)
- hsa-miR-6516-5p (MIRT777113)
- hsa-miR-658 (MIRT777336)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FECH
- Browse OriGene Inhibitory RNA Products For FECH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FECH
Clone Products
- Applied Biological Materials (abm): Clones for FECH - Select products 50% OFF >
- * FECH as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG226253
- MR226253
- MR226253L3
- MR226253L4
- RC208058
- RC208058L1
- RC208058L2
- RC208058L3
- RC208058L4
- RC215223
- RC215223L1
- RC215223L2
- RC215223L3
- RC215223L4
- RG208058
- RG215223
- RR213071
- RR213071L3
- RR213071L4
- MR226253L3V
- MR226253L4V
- RC208058L1V
- RC208058L2V
- RC208058L3V
- RC208058L4V
- RC215223L1V
- RC215223L2V
- RC215223L3V
- RC215223L4V
- RR213071L3V
- RR213071L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FECH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FECH
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IBA | 21873635 |
| GO:0005743 | mitochondrial inner membrane | ISS | -- |
| GO:0005759 | mitochondrial matrix | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for FECH Gene
Pathways & Interactions for FECH Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Porphyrin and chlorophyll metabolism | ||
| 2 | Metabolism |
.40
|
|
| 3 | HIF-1-alpha transcription factor network | ||
Pathways by source for FECH Gene
4 BioSystems pathways for FECH Gene
3 Reactome pathways for FECH Gene
2 KEGG pathways for FECH Gene
UniProtKB/Swiss-Prot P22830-HEMH_HUMAN
- Pathway: Porphyrin-containing compound metabolism; protoheme biosynthesis; protoheme from protoporphyrin-IX: step 1/1.
Interacting Proteins for FECH Gene
Selected Interacting proteins:
P22830-HEMH_HUMAN
ENSP00000372326
for FECH Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for FECH
| 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 | -- |
No data available for SIGNOR curated interactions for FECH Gene
Drugs & Compounds for FECH Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Formyl-CoA |
|
13131-49-2 |
|
|||
| Hydrogen Ion |
|
|
Transcripts for FECH Gene
mRNA/cDNA for FECH Gene
- 5 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262093 7689 nts (view in UCSC)
- ENST00000382873 2583 nts (view in UCSC)
- ENST00000585494 1874 nts (view in UCSC)
- ENST00000585699 512 nts (view in UCSC)
- ENST00000585747 564 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FECH - Select products 50% OFF >
- * FECH CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FECH
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FECH
-
Santa Cruz Biotechnology (SCBT) CRISPR for FECH
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FECH
- Browse OriGene Inhibitory RNA Products For FECH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FECH
Clone Products
- Applied Biological Materials (abm): Clones for FECH - Select products 50% OFF >
- * FECH as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG226253
- MR226253
- MR226253L3
- MR226253L4
- RC208058
- RC208058L1
- RC208058L2
- RC208058L3
- RC208058L4
- RC215223
- RC215223L1
- RC215223L2
- RC215223L3
- RC215223L4
- RG208058
- RG215223
- RR213071
- RR213071L3
- RR213071L4
- MR226253L3V
- MR226253L4V
- RC208058L1V
- RC208058L2V
- RC208058L3V
- RC208058L4V
- RC215223L1V
- RC215223L2V
- RC215223L3V
- RC215223L4V
- RR213071L3V
- RR213071L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FECH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FECH
| 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: | - | ||||||||||||||||||||||||||||||||||||
| SP6: |
Relevant External Links for FECH Gene
- GeneLoc Exon Structure for
- FECH
Expression for FECH Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FECH Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FECH
SOURCE GeneReport for Unigene cluster for FECH Gene:
Hs.365365Evidence on tissue expression from TISSUES for FECH Gene
- Liver(4.6)
- Nervous system(4)
- Bone marrow(3)
- Heart(2.8)
- Kidney(2.7)
- Blood(2.7)
- Muscle(2.7)
- Skin(2.4)
- Intestine(2.3)
- Spleen(2.1)
- Eye(2.1)
- Lung(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FECH Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
Regions:
Head and neck:
- ear
Thorax:
- heart
Abdomen:
- abdominal wall
- biliary tract
- duodenum
- gallbladder
- intestine
- liver
- pancreas
- small intestine
General:
- blood
- blood vessel
- red blood cell
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for FECH
-
OriGene qPCR primer pairs and template standards for FECH
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FECH 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | FECH 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FECH 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Fech 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Fech 30 17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FECH 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | FECH 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | FECH 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fech 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398014 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | fech 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | ferrochelatase 30 31 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003719 30 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGR272W 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HEM15 30 31 33 |
|
OneToOne | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F20141g 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | FC2 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os05g0361200 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU08291 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | hem15 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.8424 30 |
|
- 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
- ENSEMBL:
- Gene Tree for FECH (if available)
- TreeFam:
- Gene Tree for FECH (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FECH: view image
Paralogs for FECH Gene
(1) SIMAP similar genes for FECH Gene using alignment to 7 proteins:
- HEMH_HUMAN
- K7EJM8_HUMAN
- K7EJX5_HUMAN
- K7EKP7_HUMAN
- K7ELX4_HUMAN
- K7EPN2_HUMAN
- Q8TD50_HUMAN
Pseudogenes.org Pseudogenes for FECH Gene
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 |
|---|---|---|---|---|---|
| 744322 | Likely Benign: not provided | 57,562,925(-) | C/T | SYNONYMOUS_VARIANT | |
| 793429 | Likely Benign: not provided | 57,573,359(-) | C/T | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 803499 | Likely Pathogenic: Protoporphyria, erythropoietic, 1 | 57,562,983(-) | G/A | INTRON_VARIANT | |
| 803500 | Pathogenic: Protoporphyria, erythropoietic, 1 | 57,566,446(-) | C/A | SPLICE_DONOR_VARIANT | |
| 803501 | Likely Pathogenic: Protoporphyria, erythropoietic, 1 | 57,571,489(-) | CT/C | FRAMESHIFT_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FECH Gene
Disorders for FECH Gene
(26) MalaCards diseases for FECH Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| protoporphyria, erythropoietic, 1 |
|
|
| keratolytic winter erythema |
|
|
| porphyria |
|
|
| acute porphyria |
|
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| photoparoxysmal response 1 |
|
Search FECH in MalaCards
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UniProtKB/Swiss-Prot
HEMH_HUMAN- 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 mutations affecting the gene represented in this entry.
Additional Disease Information for FECH
- Genetic Association Database
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No data available for Genatlas for FECH Gene
Publications for FECH Gene
- 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 23
- 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 23
- 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 23 41
- 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 23
- The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis. (PMID: 11175906) Wu CK … Wang BC (Nature structural biology 2001) 3 4 23
ExternalLinks
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