FECH Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | FECH |
| Official Name | ferrochelatase [Source:HGNC Symbol;Acc:HGNC:3647] |
| Ensembl ID | ENSG00000066926 |
| Bio databases IDs | |
| Aliases | ferrochelatase, protoporphyria |
| Synonyms | EPP, EPP1, FCE, fch, Fcl, ferrochelatase |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FECH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ferrous iron binding
- Chelatase_Class_II
- ferrochelatase
- protein homodimerization
- iron-sulfur cluster domain
- iron ion binding
- enzyme
- iron-responsive element binding
- protein binding
- heme binding
- identical protein binding
- tetrapyrrole binding
Pathways
Biological processes and signaling networks where the FECH gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- gastric cancer
- erythropoietic protoporphyria type 1
- colorectal cancer
- erythropoietic protoporphyria
- myopathy with exercise intolerance Swedish type
- retinal neovascularization
role in cell
- proliferation
- differentiation
- survival
- outgrowth
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial matrix
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FECH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- generation of precursor metabolites and energy
- multicellular organismal iron ion homeostasis
- protoporphyrinogen IX metabolic process
- detection of UV
- cholesterol metabolic process
- heme biosynthetic process
- heme a biosynthetic process
- regulation of hemoglobin biosynthetic process
- response to xenobiotic stimulus
- response to light stimulus
- heme b biosynthetic process
- heme O biosynthetic process
- response to ethanol
- erythrocyte differentiation
- response to methylmercury
- response to insecticide
- regulation of eIF2 alpha phosphorylation by heme
- response to platinum ion
- response to arsenic-containing substance
- very-low-density lipoprotein particle assembly
- cellular response to dexamethasone stimulus
- response to lead ion
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- ferrochelatase activity
- identical protein binding
- protein homodimerization activity
- protein binding
- ferrous iron binding
- iron-responsive element binding
- 2 iron, 2 sulfur cluster binding
- heme binding