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Reviewed January 2008
What is the official name of the FAH gene?
The official name of this gene is “fumarylacetoacetate hydrolase (fumarylacetoacetase).”
FAH is the gene's official symbol. The FAH gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the FAH gene?
The FAH gene provides instructions for making an enzyme called fumarylacetoacetate hydrolase. This enzyme is abundant in the liver and kidneys, and smaller amounts are found in many tissues throughout the body. Fumarylacetoacetate hydrolase is the last in a series of five enzymes needed to break down the amino acid tyrosine, a protein building block found in many foods. Specifically, fumarylacetoacetate hydrolase converts a tyrosine byproduct called fumarylacetoacetate into smaller molecules that are either excreted by the kidneys or used in reactions that produce energy.
How are changes in the FAH gene related to health conditions?
Where is the FAH gene located?
Cytogenetic Location: 15q25.1
Molecular Location on chromosome 15: base pairs 80,445,232 to 80,478,923
The FAH gene is located on the long (q) arm of chromosome 15 at position 25.1.
More precisely, the FAH gene is located from base pair 80,445,232 to base pair 80,478,923 on chromosome 15.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about FAH?
You and your healthcare professional may find the following resources about FAH helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the FAH gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 FAH?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 links)
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.