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Reviewed August 2008
What is the official name of the JPH3 gene?
The official name of this gene is “junctophilin 3.”
JPH3 is the gene's official symbol. The JPH3 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 JPH3 gene?
The JPH3 gene provides instructions for making a protein called junctophilin-3, which is found primarily in the brain. Although the exact function of this protein is unclear, researchers believe that it plays a role in the formation of a structure called the junctional membrane complex. This complex connects certain channels inside cells with other channels at the cell surface. The junctional membrane complex appears to be involved in the release of charged calcium atoms (calcium ions), which are critical for transmitting signals within cells. As part of the junctional membrane complex, junctophilin-3 is probably involved in signaling within and between nerve cells (neurons) in the brain.
One region of the JPH3 gene contains a particular DNA segment known as a CAG/CTG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (nucleotides) that appear multiple times in a row. Normally, the CAG/CTG segment is repeated 6 to 28 times within the gene.
How are changes in the JPH3 gene related to health conditions?
Where is the JPH3 gene located?
Cytogenetic Location: 16q24.3
Molecular Location on chromosome 16: base pairs 87,635,440 to 87,731,761
The JPH3 gene is located on the long (q) arm of chromosome 16 at position 24.3.
More precisely, the JPH3 gene is located from base pair 87,635,440 to base pair 87,731,761 on chromosome 16.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about JPH3?
You and your healthcare professional may find the following resources about JPH3 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 JPH3 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 JPH3?
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.