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Reviewed October 2012
What is the official name of the FA2H gene?
The official name of this gene is “fatty acid 2-hydroxylase.”
FA2H is the gene's official symbol. The FA2H 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 FA2H gene?
The FA2H gene provides instructions for making an enzyme called fatty acid 2-hydroxylase. This enzyme modifies fatty acids, which are building blocks used to make fats (lipids). Specifically, fatty acid 2-hydroxylase adds a single oxygen atom to a hydrogen atom at a particular point on a fatty acid to create a 2-hydroxylated fatty acid. Certain 2-hydroxylated fatty acids are important in forming normal myelin; myelin is the protective covering that insulates nerves and ensures the rapid transmission of nerve impulses. The part of the brain and spinal cord that contains myelin is called white matter.
How are changes in the FA2H gene related to health conditions?
Where is the FA2H gene located?
Cytogenetic Location: 16q23
Molecular Location on chromosome 16: base pairs 74,712,955 to 74,774,831
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The FA2H gene is located on the long (q) arm of chromosome 16 at position 23.
More precisely, the FA2H gene is located from base pair 74,712,955 to base pair 74,774,831 on chromosome 16.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about FA2H?
You and your healthcare professional may find the following resources about FA2H 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 FA2H 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 FA2H?
acids ; atom ; atrophy ; autosomal ; autosomal recessive ; demyelination ; domain ; enzyme ; fatty acids ; gene ; iron ; leukodystrophy ; nervous system ; neurological ; optic nerve ; oxygen ; paraplegia ; recessive ; white matter
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 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.