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Reviewed March 2014
What is the official name of the GPHN gene?
The official name of this gene is “gephyrin.”
GPHN is the gene's official symbol. The GPHN 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 GPHN gene?
The GPHN gene provides instructions for making a protein called gephyrin, which has two major functions in the body: the protein aids in the formation (biosynthesis) of a molecule called molybdenum cofactor, and it also plays a role in communication between nerve cells (neurons).
Gephyrin performs the final two steps in molybdenum cofactor biosynthesis. Molybdenum cofactor, which contains the element molybdenum, is essential to the function of several enzymes called sulfite oxidase, aldehyde oxidase, xanthine dehydrogenase, and mitochondrial amidoxime reducing component (mARC). These enzymes help break down (metabolize) different substances in the body, some of which are toxic if not metabolized.
Gephyrin also plays an important role in neurons. Communication between neurons depends on chemicals called neurotransmitters. To relay signals, a neuron releases neurotransmitters, which attach to receptor proteins on neighboring neurons. Gephyrin anchors certain receptor proteins to the correct location in neurons so that the receptors can receive the signals relayed by neurotransmitters.
How are changes in the GPHN gene related to health conditions?
Genetics Home Reference provides information about hereditary hyperekplexia, which is also associated with changes in the GPHN gene.
Where is the GPHN gene located?
Cytogenetic Location: 14q23.3
Molecular Location on chromosome 14: base pairs 66,507,407 to 67,181,808
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The GPHN gene is located on the long (q) arm of chromosome 14 at position 23.3.
More precisely, the GPHN gene is located from base pair 66,507,407 to base pair 67,181,808 on chromosome 14.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about GPHN?
You and your healthcare professional may find the following resources about GPHN 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 GPHN 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 GPHN?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 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.