Ferrochelatase

Alternative Names

  • FECH
  • Heme synthase
  • Heme Synthetase
  • Iron Chelatase
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OMIM Number

612386

NCBI Gene ID

2235

Uniprot ID

P22830

Length

42,349 bases

No. of Exons

12

No. of isoforms

1

Protein Name

Ferrochelatase, mitochondrial

Molecular Mass

47862 Da

Amino Acid Count

423

Genomic Location

chr18:57,544,389-57,586,737

Gene Map Locus
18q21.31

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001012515.3:c.690T>GSyriachr18:57562907PathogenicProtoporphyria, Erythropoietic, 1NG_008175.1:g.28831T>G; NM_001012515.3:c.690T>G; NP_001012533.1:p.Ile230Met
NM_001012515.3:c.881T>CLebanonchr18:57554894PathogenicProtoporphyria, Erythropoietic, 1NG_008175.1:g.36844T>C; NM_001012515.3:c.881T>C; NP_001012533.1:p.Met294Thr2050848809
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