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Reviewed August 2012
What is the official name of the C9orf72 gene?
The official name of this gene is “chromosome 9 open reading frame 72.”
C9orf72 is the gene's official symbol. The C9orf72 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 C9orf72 gene?
The C9orf72 gene provides instructions for making a protein that is found in many tissues but whose function is unknown. Three different versions (isoforms) of the C9orf72 protein are produced from the C9orf72 gene. These isoforms are likely found in different tissues, but their purpose is unclear. The C9orf72 protein is produced in many regions of the brain. Within nerve cells (neurons), the protein is found in the fluid surrounding the nucleus (the cytoplasm). Additionally, the C9orf72 protein seems to be located in specialized structures called presynaptic terminals, found at the tips of neurons.
How are changes in the C9orf72 gene related to health conditions?
Where is the C9orf72 gene located?
Cytogenetic Location: 9p21.2
Molecular Location on chromosome 9: base pairs 27,546,546 to 27,573,866
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The C9orf72 gene is located on the short (p) arm of chromosome 9 at position 21.2.
More precisely, the C9orf72 gene is located from base pair 27,546,546 to base pair 27,573,866 on chromosome 9.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about C9orf72?
You and your healthcare professional may find the following resources about C9orf72 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 C9orf72 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 C9orf72?
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.