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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FECH Gene

protein-coding GIFtS: 67
GCID: GC18M055191

ferrochelatase

(Previous name: ferrochelatase (protoporphyria) )

Explore 43 diseases affiliated with
FECH via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Ferrochelatase¹		Ferrochelatase (Protoporphyria)¹
Heme Synthase² ³		EPP²
Protoheme Ferro-Lyase² ³		Ferrochelatase, Mitochondrial²
EC 4.99.1.1³ ⁸		Heme Synthetase²
FCE² ⁵		Protoporphyria¹

External Ids:	HGNC: 3647¹	Entrez Gene: 2235²	Ensembl: ENSG00000066926⁷	OMIM: 612386⁵	UniProtKB: P22830³

Export aliases for FECH gene to outside databases

Previous GC identifers: GC18P055578 GC18M055001 GC18M053365 GC18M053367 GC18M051922

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FECH:

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)

UniProtKB/Swiss-Prot: HEMH_HUMAN, P22830

Function: Catalyzes the ferrous insertion into protoporphyrin IX

Gene Wiki entry for FECH (Ferrochelatase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000018.9 NC_018929.1 NT_025028.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FECH gene promoter:
HOXA3 Brachyury HNF-1A C/EBPalpha Max HNF-1 AP-2beta AP-2alpha c-Myc AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FECH promoter sequence

Search SABiosciences Chromatin IP Primers for FECH

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FECH

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q21.3 Ensembl cytogenetic band: 18q21.31 HGNC cytogenetic band: 18q21.2-q21.3

FECH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FECH gene location

GeneLoc information about chromosome 18 GeneLoc Exon Structure

GeneLoc location for GC18M055191: view genomic region (about GC identifiers)

Start:	55,212,073 bp from pter	End:	55,254,004 bp from pter
Size:	41,932 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HEMH_HUMAN, P22830 (See protein sequence)

Recommended Name: Ferrochelatase, mitochondrial precursor

Size: 423 amino acids; 47862 Da

Cofactor: Binds 1 2Fe-2S cluster

Subunit: Homodimer

Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side

6/17 PDB 3D structures from and Proteopedia for FECH (see all 17):

1HRK (3D)

2HRC (3D)

2HRE (3D)

2PNJ (3D)

2PO5 (3D)

2PO7 (3D)

Secondary accessions: A8KA72 Q8IXN1 Q8NAN0

Alternative splicing: 2 isoforms: P22830-1 P22830-2

Explore the universe of human proteins at neXtProt for FECH: NX_P22830

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P22830

4/9 DME Specific Peptides for FECH (P22830) (see all 9)

SDHIETL

FSAHSLP

FLLRLFLD

GDPYPQEV

FECH Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000131.2 NP_001012533.1

ENSEMBL proteins:

ENSP00000262093 ENSP00000372326 ENSP00000465243 ENSP00000465363 ENSP00000466263

ENSP00000467461 ENSP00000465717

Reactome Protein details: P22830
Human Recombinant Protein Products:

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	Novus Biologicals FECH Proteins Novus Biologicals FECH Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for FECH

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	--	--
GO:0005743	mitochondrial inner membrane	IEA	--
GO:0005759	mitochondrial matrix	TAS	--

FECH for ontologies About GeneDecksing

FECH Antibody Products:

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Assay Products for FECH:

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	Uscn ELISAs and CLIAs for FECH

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FECH for domains About GeneDecksing

2 InterPro domains/families:

IPR001015 Ferrochelatase

IPR019772 Ferrochelatase_AS

Graphical View of Domain Structure for InterPro Entry P22830

ProtoNet protein and cluster: P22830

1 Blocks protein family: IPB001015 Ferrochelatase

UniProtKB/Swiss-Prot: HEMH_HUMAN, P22830

Similarity: Belongs to the ferrochelatase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: HEMH_HUMAN, P22830

Function: Catalyzes the ferrous insertion into protoporphyrin IX

Catalytic activity: Protoheme + 2 H(+) = protoporphyrin + Fe(2+)

Enzyme regulation: Inhibited by nitric oxide (NO). The 2Fe-2S cluster could act as a NO sensor

Genatlas biochemistry entry for FECH:

ferrochelatase,inner mitochondrial membrane,catalyzing heme formation,from protoporphyrin

Enzyme Number (IUBMB): EC 4.99.1.1¹ ²

miRNA Products:		OriGene 3'-UTR Clone (see all 2): FECH Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FECH
		8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate FECH (see all 36):
		hsa-miR-140-5p hsa-miR-4307 hsa-miR-3194-5p hsa-miR-607 hsa-miR-578 hsa-miR-374a hsa-miR-105 hsa-miR-183*

		SwitchGear 3'UTR luciferase reporter plasmid: FECH 3' UTR sequence

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Gene Editing
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DNA2.0 Custom Protein Engineering Service for FECH

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FECH

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004325	ferrochelatase activity	TAS	--
GO:0005506	iron ion binding	--	--
GO:0005515	protein binding	IPI	15123683
GO:0008198	ferrous iron binding	TAS	1729699
GO:0020037	heme binding	IEA	--

FECH for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for FECH:

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-out Fech^tm1Dab for FECH
10 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Fech):

adipose tissue	behavior/neurological	growth/size	hematopoietic system	homeostasis/metabolism
immune system	integument	liver/biliary system	mortality/aging	reproductive system

FECH for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

heme biosynthesis II

heme biosynthesis II	1.00	Metabolism of porphyrins	0.50
Heme Biosynthesis	0.78	heme biosynthesis from uroporphyrinogen-III I	0.43
Heme biosynthesis	0.78

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

HIF-1-alpha transcription factor network

HIF-1-alpha transcription factor network

1.00

Glucuronidation

Porphyrin and chlorophyll metabolism

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

4 BioSystems Pathways for FECH

	Heme Biosynthesis
	heme biosynthesis from uroporphyrinogen-III I
	HIF-1-alpha transcription factor network
	heme biosynthesis II

3 Reactome Pathways for FECH

	Metabolism of porphyrins
	Heme biosynthesis
	Metabolism

2 Kegg Pathways (Kegg details for FECH):

	Porphyrin and chlorophyll metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: HEMH_HUMAN, P22830

Pathway: Porphyrin metabolism; protoheme biosynthesis; protoheme from protoporphyrin-IX: step 1/1

FECH for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for FECH

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

5/68 Interacting proteins for FECH (P22830³ ENSP00000372326⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 68)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805³	I2D: score=1
HIST1H4B	P62805³	I2D: score=1
HIST1H4C	P62805³	I2D: score=1
HIST1H4D	P62805³	I2D: score=1
HIST1H4E	P62805³	I2D: score=1

About this table

Gene Ontology (GO): 5/23 biological process terms (GO ID links to tree view) (see all 23): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006091	generation of precursor metabolites and energy	TAS	1729699
GO:0006778	porphyrin-containing compound metabolic process	TAS	--
GO:0006779	porphyrin-containing compound biosynthetic process	--	--
GO:0006783	heme biosynthetic process	TAS	--
GO:0008203	cholesterol metabolic process	IEA	--

FECH for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

FECH for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FECH

3 HMDB Compounds for FECH About this table

Compound	Synonyms	CAS #	PubMed Ids
Formyl-CoA	Formyl coenzyme A	13131-49-2	--
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
Protoporphyrin IX	3,3'-(3,7,12,17-tetramethyl-8,13-divinyl-21H,23H-porphine-2,18-diyl)-bis-propionate (see all 11)	553-12-8	--

1 DrugBank Compound for FECH About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Cholic Acid	--	81-25-4	target	--	17139284 17016423 10592235

10/36 Novoseek chemical compound relationships for FECH gene (see all 36) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
protoporphyrin ix	96.2	166	16288996 (6), 17875605 (4), 16150949 (3), 19850353 (3) (see all 99)
n-methylmesoporphyrin	90.3	10	10704318 (2), 19597542 (1), 17261801 (1), 16833362 (1) (see all 5)
ppix	86.9	27	17875605 (3), 8795569 (2), 19955842 (2), 18613640 (1) (see all 13)
haem	86.6	67	7918587 (3), 19251765 (3), 16614385 (3), 2310162 (1) (see all 33)
mesoporphyrin	85.7	2	9989256 (1), 7947988 (1)
porphyrin	85.2	40	12589563 (3), 12668611 (2), 8337255 (2), 10704318 (2) (see all 25)
5-aminolevulinic acid	84.8	48	16288996 (4), 10215191 (2), 7575558 (2), 19735078 (2) (see all 22)
protoporphyrinogen	83.4	8	8948097 (2), 1939451 (2), 9250538 (1), 12699245 (1)
porphobilinogen	78.8	15	10207080 (1), 9744510 (1), 12699249 (1), 16125296 (1) (see all 13)
n-methylprotoporphyrin	71.7	3	10725301 (2), 12417755 (1)

Search CenterWatch for drugs/clinical trials and news about FECH / HEMH

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FECH gene (2 alternative transcripts):

NM_000140.3 NM_001012515.2

Unigene Cluster for FECH:

Ferrochelatase

Hs.365365 [show with all ESTs]

Unigene Representative Sequence: NM_001012515

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000262093(uc002lgp.4 uc002lgq.4 uc002lgr.4) ENST00000382873

ENST00000585494 ENST00000591977 ENST00000592699 ENST00000585699 ENST00000591215

ENST00000585747 ENST00000585878 ENST00000592111

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FECH
		8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate FECH (see all 36):
		hsa-miR-140-5p hsa-miR-4307 hsa-miR-3194-5p hsa-miR-607 hsa-miR-578 hsa-miR-374a hsa-miR-105 hsa-miR-183*

		SwitchGear 3'UTR luciferase reporter plasmid: FECH 3' UTR sequence

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Additional cDNA sequence:

AK092416.1 AK223190.1 AK292937.1 AK299643.1 BC039841.1 BT019958.1 BT019959.1 BX571744.1

D00726.1

14 DOTS entries:

DT.448815 DT.99934005 DT.210615 DT.92434354 DT.121091841 DT.97774315 DT.317890 DT.121091867

DT.95284942 DT.100794168 DT.121091881 DT.91803780 DT.95284937 DT.121091861

24/255 AceView cDNA sequences (see all 255):

BQ215119 AW444838 H54444 BQ921038 BE856097 AW052094 CB996668 BU732261

AA133973 AJ709747 BQ218316 AA243664 BU509615 CR605426 AA243731 CR623385

BQ185721 AI168657 AA332699 BQ651052 AA918381 AI277629 BI861282 H54533

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for FECH (see all 6) About this scheme

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:											-

ECgene alternative splicing isoforms for FECH

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FECH expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCATTTGTTG

About this image

FECH expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FECH Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FECH

SOURCE GeneReport for Unigene cluster: Hs.365365

SABiosciences Custom PCR Arrays for FECH

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FECH Browse OriGene validated miRNA SYBR primer pairs
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FECH

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for FECH gene from 10/36 species (see all 36) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fech^{1 , 5}	ferrochelatase^{1, 5}	87.05(n)¹ 88.86(a)¹		18 (37.43 cM)⁵ 14151¹ NM_007998.6¹ NP_032024.2¹ 64456550⁵
chicken (Gallus gallus)	Aves	FECH¹	ferrochelatase	76.78(n) 83.83(a)		374020 NM_204196.1 NP_989527.1
lizard (Anolis carolinensis)	Reptilia	FECH⁶	--	82(a)	1 ↔ 1	GL343213.1(2144581-2165214)
African clawed frog (Xenopus laevis)	Amphibia	LOC398014²	ferrochelatase	77.74(n)		AF036617.1
zebrafish (Danio rerio)	Actinopterygii	fech²	ferrochelatase	77.65(n)		58215 AF250368.1
fruit fly (Drosophila melanogaster)	Insecta	ferrochelatase^{1 , 3}	protoporphyrinogen IX biosynthesis ferrochelatase less³ CG2098-PA¹	55(a)³ 59.23(n)¹ 56.21(a)¹		100D2³ 43757¹ NM_079874.3¹ NP_524613.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	HEM15(YOR176W)⁴ HEM15¹	Ferrochelatase, a mitochondrial inner membrane protein, catalyzes the insertion of ferrous iron into protoporphyrin IX, the eighth and final step in the heme biosynthetic pathway less⁴ Hem15p¹	55.03(n)¹ 52.37(a)¹		15(662401-663582)⁴ 854347^{1, 4} NP_014819.3¹ NP_014819.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	FC-I⁶ FC-II⁶	ferrochelatase 2	30(a) 28(a)	many → 1 many → 1	5(9096460-9099185) 2(12951027-12954114)
rice (Oryza sativa)	Liliopsida	-- --	ferrochelatase-2, chloroplast precursor, putative,... ferrochelatase-2, chloroplast precursor, putative,...	27(a) 27(a)	many → 1 many → 1	5(17149221-17156417) 9(7197633-7203750)
E. coli (Escherichia coli)	Gamma proteobacteria	hemH⁶	ferrochelatase	26(a)	1 ↔ 1	Chromosome(497279-498241)

ENSEMBL Gene Tree for FECH (if available)
TreeFam Gene Tree for FECH (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for FECH gene

1 SIMAP similar gene for FECH using alignment to 7 protein entries: HEMH_HUMAN (see all proteins):

DKFZp686P18130

FECH for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for FECH
PGOHUM00000237991

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 18 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs146899669^1,2	C	pathogenic	51928163(+)	`CCTGCA/CGACAG`	4	G C	mis¹		1		NA	4552
rs118204037^1,2	C,F,	probable-pathogenic	51936552(-)	`CCCATA/G/TTCTGT`	6	I M	mis¹		1		NA	4550
rs3848519^1,2	C,F,H,	untested	51957547(+)	`TGCACA/C/TCTGGG`	6	S G C	mis¹ ese³		20		NS EA NA CSA EU	7963
rs78724513^1,2		--	51922220(+)	`GACAAA/CAAAAA`	2	--	ds500¹		1		EA	120
rs78224804^1,2	F,	--	51922531(+)	`GTTCCC/TATTTC`	2	--	ut3¹		1		WA	118
rs77084734^1,2		--	51922639(+)	`TAACAA/GAGGCT`	2	--	ut3¹		1		WA	118
rs55987829^1,2		--	51922979(+)	`ACGCAC/TGGAGC`	2	--	ut3¹		0	--	--	--	--
rs114530851^1,2	C,F,	--	51923148(+)	`GTGCAT/CATGGA`	2	--	ut3¹		1		WA	118
rs7238897^1,2	C,F,H,	--	51923233(+)	`AAAAAA/CANNNN`	2	--	ut3¹		18		NS EA NA WA CSA	1966
rs7228449^1,2	C,F,H,	--	51923656(+)	`GTGCCT/CTCACG`	2	--	ut3¹		6		NS EA WA	532

HapMap Linkage Disequilibrium report for FECH (55212073 - 55254004 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for FECH
1 CNV: 8858
Human Gene Mutation Database (HGMD): FECH

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FECH

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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FECH for disorders           About GeneDecksing

OMIM gene information: 612386
OMIM disorders: 177000
UniProtKB/Swiss-Prot: HEMH_HUMAN, P22830

Defects in FECH are the cause of erythropoietic protoporphyria (EPP) [MIM:177000]. 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. EPP is a form of porphyria 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

20/43 diseases for FECH (see all 43): About MalaCards

erythropoietic protoporphyria protoporphyria, erythropoietic, autosomal dominant porphyria cutanea tarda porphyria

congenital erythropoietic porphyria iron deficiency anemia coproporphyria hypochromic anemia

macrocytic anemia acute hepatic porphyria sideroblastic anemia haemophilus influenzae

metabolic disorders alcohol abuse friedreich ataxia porokeratosis

acute porphyria anemia myeloproliferative disorder keratoderma

4 diseases from the University of Copenhagen DISEASES database for FECH:

Erythropoietic protoporphyria Hereditary coproporphyria Cutaneous porphyria Variegate porphyria

10/21 Novoseek disease relationships for FECH gene (see all 21) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
protoporphyria erythropoietic	98.5	174	2378891 (5), 12149233 (4), 1783383 (2), 7592569 (2) (see all 99)
skin photosensitivity	86.9	15	15654982 (2), 10942404 (1), 17298226 (1), 10068685 (1) (see all 11)
porphyria	82.7	8	16882191 (1), 20105171 (1), 17597821 (1), 12699245 (1)
porphyria, congenital erythropoietic	82.2	9	10582332 (1), 17297688 (1), 15046047 (1), 18846613 (1) (see all 9)
porphyria variegate	75.8	1	12699245 (1)
coproporphyria hereditary	74.9	1	8621830 (1)
porphyria hepatic	72.8	2	9347226 (1), 16125296 (1)
porphyria acute intermittent	67.5	1	12699245 (1)
liver failure	59.6	5	8500787 (1), 10942404 (1), 7648240 (1), 15358105 (1)
erythroleukemia	59.6	5	10903501 (1), 16288996 (1), 12480705 (1), 19965627 (1) (see all 5)

Genetic Association Database (GAD): FECH
Human Genome Epidemiology (HuGE) Navigator: FECH (3 documents)

Export disorders for FECH gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for FECH gene, integrated from 9 sources (see all 319):
(articles sorted by number of sources associating them with FECH)

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Mammalian ferrochelatase. Expression and characterization of normal and two human protoporphyric ferrochelatases. (PubMed id 8276824)^{1, 2, 9} Dailey H.A.... Dailey T.A. (1994)
Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria. (PubMed id 10942404)^{1, 2, 9} Schneider-Yin X....Ferreira G.C. (2000)
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. (PubMed id 9585598)^{1, 2, 9} Ruefenacht U.B.... Deybach J.-C. (1998)
Evidence that the fourth ligand to the 2Fe-2S cluster in animal ferrochelatase is a cysteine. Characterization of the enzyme from Drosophila melanogaster. (PubMed id 9712849)^{1, 2, 9} Sellers V.M.... Dailey H.A. (1998)
Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria. (PubMed id 17196862)^{1, 2, 9} Aurizi C....Biolcati G. (2007)
Substrate interactions with human ferrochelatase. (PubMed id 17261801)^{1, 2, 9} Medlock A....Lanzilotta W.N. (2007)
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria. (PubMed id 12601550)^{1, 2, 9} Wiman A.... Harper P. (2003)
Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria. (PubMed id 9740232)^{1, 2, 9} Gouya L.... Minder E.I. (1998)
Site-directed mutagenesis and spectroscopic characterization of human ferrochelatase: identification of residues coordinating the [2Fe-2S] cluster. (PubMed id 8973195)^{1, 2, 9} Crouse B.R.... Johnson M.K. (1996)
Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase. (PubMed id 2260980)^{1, 2, 9} Nakahashi Y.... Tokunaga R. (1990)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2235	HGNC: 3647	AceView: FECH	Ensembl:ENSG00000066926	euGenes: HUgn2235
ECgene: FECH	Kegg: 2235	H-InvDB: FECH

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for FECH	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FECH
Wikipedia	http://en.wikipedia.org/wiki/Ferrochelatase

Intellectual Property for FECH gene
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Patent Information for FECH gene:
Search GeneIP for patents involving FECH

GeneCards and IP:
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