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MGP001057

UniProt Annotations

Entry Information
Gene Nameferrochelatase
Protein EntryHEMH_HUMAN
UniProt IDP22830
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P22830-1; Sequence=Displayed; Name=2; IsoId=P22830-2; Sequence=VSP_041208;
Catalytic ActivityProtoheme + 2 H(+) = protoporphyrin + Fe(2+).
CofactorName=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601; Note=Binds 1 [2Fe-2S] cluster.;
DiseaseErythropoietic protoporphyria (EPP) [MIM:177000]: A form of porphyria. 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:9585598, ECO:0000269|PubMed:9740232}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationInhibited by nitric oxide (NO). The 2Fe-2S cluster could act as a NO sensor.
FunctionCatalyzes the ferrous insertion into protoporphyrin IX.
PathwayPorphyrin-containing compound metabolism; protoheme biosynthesis; protoheme from protoporphyrin-IX: step 1/1.
SimilarityBelongs to the ferrochelatase family. {ECO:0000305}.
Subcellular LocationMitochondrion inner membrane; Peripheral membrane protein; Matrix side.
SubunitHomodimer. {ECO:0000269|PubMed:17261801}.
Web ResourceName=Wikipedia; Note=Ferrochelatase entry; URL="http://en.wikipedia.org/wiki/Ferrochelatase";
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