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Reviewed August 2013
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 that is found in the membranes of multiple cellular structures, but whose function is not completely understood. Researchers have proposed several potential functions for the CLN3 protein, including 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), movement of cell structures, and in the self-destruction of cells (apoptosis). Additionally, the CLN3 protein appears to be important for the normal function of cell structures call 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.
How are changes in the CLN3 gene related to health conditions?
Genetics Home Reference provides information about infantile neuronal ceroid lipofuscinosis, which is also associated with changes in the CLN3 gene.
Where is the CLN3 gene located?
Cytogenetic Location: 16p12.1
Molecular Location on chromosome 16: base pairs 28,466,652 to 28,492,301
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 28,466,652 to base pair 28,492,301 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 (8 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.