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Reviewed September 2013
What is the official name of the CLN8 gene?
The official name of this gene is “ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation).”
CLN8 is the gene's official symbol. The CLN8 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 CLN8 gene?
The CLN8 gene provides instructions for making a protein whose precise function is not known but is thought to play a transport role within cells. Specifically, the CLN8 protein likely helps to transport materials in and out of a cell structure called the endoplasmic reticulum, which is involved in protein production, processing, and transport. Based on the structure of the CLN8 protein, it may also be involved in regulating the levels of fats (lipids) in cells.
How are changes in the CLN8 gene related to health conditions?
Where is the CLN8 gene located?
Cytogenetic Location: 8p23
Molecular Location on chromosome 8: base pairs 1,755,777 to 1,786,569
The CLN8 gene is located on the short (p) arm of chromosome 8 at position 23.
More precisely, the CLN8 gene is located from base pair 1,755,777 to base pair 1,786,569 on chromosome 8.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CLN8?
You and your healthcare professional may find the following resources about CLN8 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 CLN8 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 CLN8?
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.