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Description for Protein FECH

ferrochelatase
4 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
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. (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
4.99.1.1
KEGG - Orthology:
K01772
KEGG - Pathway(s):
hsa00860; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Heme synthetase; Protoheme ferro-lyase; Ferrochelatase, mitochondrial; EC 4.99.1.1; EPP; FCE; Ferrochelatase (protoporphyria); Heme synthase; Iron chelatase; Ferrochelatase isoform b precursor; Ferrochelatase isoform a precursor
Approved Symbol:
FECH
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • Cholic Acid(db)

    Associated Genetic Diseases:

  • Protoporphyria, erythropoietic(Pd);
  • Protoporphyria, erythropoietic, autosomal recessive(Pd);
  • Protoporphyria, erythropoietic, modifier of(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01509 Entrez Gene ID: 2235 OMIM ID: 612386 Swissprot Accession: P22830; Q7KZA3; Q8NAN0;