Reviewed November 2006
What is the official name of the FECH gene?
The official name of this gene is “ferrochelatase (protoporphyria).”
FECH is the gene's official symbol. The FECH gene is also known by other names, listed below.
What is the normal function of the FECH gene?
The FECH gene provides instructions for the production of an enzyme called ferrochelatase. This enzyme is the eighth and final enzyme involved in the production of heme, the iron-containing part of hemoglobin. Hemoglobin is the oxygen-carrying protein in red blood cells. Each step in heme production is controlled by a different enzyme, each of which is produced from a single gene. To form heme, ferrochelatase inserts an iron atom into the center of protoporphyrin IX (the product of the seventh step in the heme production pathway). This reaction occurs within the cell's energy-producing structures (mitochondria). The heme molecule is incorporated into hemoglobin and packaged into red blood cells, or it is used in the liver for the production of certain liver enzymes.
How are changes in the FECH gene related to health conditions?
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porphyria - caused by mutations in the FECH gene
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More than 80 different mutations in the FECH gene have been identified in individuals with a form of porphyria called erythropoietic protoporphyria. These mutations greatly reduce the activity of ferrochelatase when they occur in one of the two copies of the FECH gene in each cell. To show signs and symptoms of the disorder, however, a person must also have a particular version of the other copy of the gene. This variant gene, called a low-expression allele, reduces enzyme activity even further. Low levels of enzyme activity allow protoporphyrin (a byproduct of heme production) to build up in the body. High levels of protoporphyrin in the skin cause sun sensitivity characteristic of erythropoietic protoporphyria, and increased levels of this substance in the liver can result in liver damage.
Where is the FECH gene located?
Cytogenetic Location: 18q21.3
Molecular Location on chromosome 18: base pairs 53,366,534 to 53,404,987
The FECH gene is located on the long (q) arm of chromosome 18 at position 21.3.
More precisely, the FECH gene is located from base pair 53,366,534 to base pair 53,404,987 on chromosome 18.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about FECH?
You and your healthcare professional may find the following resources about FECH helpful.
- Educational resources - Information pages
- Gene Tests - DNA tests ordered by healthcare professionals
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature
- OMIM - Genetic disorder catalog
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What other names do people use for the FECH gene or gene products?
- Heme Synthetase
- HEMH_HUMAN
- Porphyrin-Metal Chelatase
- Protoheme Ferro-Lyase
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding FECH?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
healthcare professional.
See How can I find a genetics professional in my area? in the Handbook.