Reviewed April 2007
What is the official name of the PRX gene?
The official name of this gene is “periaxin.”
PRX is the gene's official symbol. The PRX gene is also known by other names, listed below.
What is the normal function of the PRX gene?
The PRX gene provides instructions for making a protein called periaxin. Periaxin is required for the maintenance of myelin, the protective substance that covers nerves and promotes the efficient transmission of nerve impulses. The exact function of periaxin is unclear, but research suggests that it helps to stabilize the myelin.
The PRX gene produces two forms of periaxin, called long (L) and short (S) because they differ in size. Research studies show that the short form (S-periaxin) is distributed throughout the cytoplasm, the fluid inside cells. The long form (L-periaxin) is concentrated initially in the cell nucleus, then relocates to the cell membrane during the formation of myelin. L- and S-periaxin probably have slightly different functions, based on their different cell locations.
How are changes in the PRX gene related to health conditions?
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Charcot-Marie-Tooth disease - caused by mutations in the PRX gene
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Researchers have identified several PRX mutations that cause a form of Charcot-Marie-Tooth disease known as type 4F (sometimes called Dejerine-Sottas syndrome). One mutation affects both L- and S-periaxin, while the other mutations affect only L-periaxin. An abnormally short protein is produced as the result of PRX mutations. The shortened protein cannot perform its normal function, maintaining the myelin structure. Disrupted myelin structure can lead to the loss of myelin (demyelination), which can impair the transmission of nerve impulses and cause the signs and symptoms of type 4F Charcot-Marie-Tooth disease.
Where is the PRX gene located?
Cytogenetic Location: 19q13.1-13.2
Molecular Location on chromosome 19: base pairs 45,591,514 to 45,611,110
The PRX gene is located on the long (q) arm of chromosome 19 between positions 13.1 and 13.2.
More precisely, the PRX gene is located from base pair 45,591,514 to base pair 45,611,110 on chromosome 19.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PRX?
You and your healthcare professional may find the following resources about PRX 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 PRX gene or gene products?
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 PRX?
cell ;
cell membrane ;
cell nucleus ;
cytoplasm ;
demyelination ;
gene ;
mutation ;
nucleus ;
protein ;
sign ;
symptom ;
syndrome
You may find definitions for these and many other terms in the Genetics Home Reference
Glossary.
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.