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Reviewed June 2009
What is the official name of the CLN3 gene?
The official name of this gene is “ceroid-lipofuscinosis, neuronal 3.”
CLN3 is the gene's official symbol. The CLN3 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 CLN3 gene?
The CLN3 gene provides instructions for making a protein whose function is unknown. Although the CLN3 protein is found in cells throughout the body, it appears to play a particularly important role in the survival of nerve cells (neurons) in the brain.
The CLN3 protein is found in several different parts of cells, including the cell membrane. Researchers have proposed many potential functions for this protein. These include protein transport (trafficking), cell-to-cell communication, and the transmission of chemical signals. The CLN3 protein may also be involved in the organization of the cell's structural framework (cytoskeleton) and in the self-destruction of cells (apoptosis). Additionally, the protein appears to be important for the normal function of cell structures called lysosomes. Lysosomes are compartments in the cell that normally break down toxic substances and recycle different types of molecules. Researchers propose that the CLN3 protein may help regulate the size and relative acidity (pH) of lysosomes. Additional functions of this protein are under study.
How are changes in the CLN3 gene related to health conditions?
Where is the CLN3 gene located?
Cytogenetic Location: 16p12.1
Molecular Location on chromosome 16: base pairs 28,488,599 to 28,503,622
The CLN3 gene is located on the short (p) arm of chromosome 16 at position 12.1.
More precisely, the CLN3 gene is located from base pair 28,488,599 to base pair 28,503,622 on chromosome 16.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CLN3?
You and your healthcare professional may find the following resources about CLN3 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 CLN3 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 CLN3?
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.