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Reviewed April 2008
What is the official name of the SACS gene?
The official name of this gene is “spastic ataxia of Charlevoix-Saguenay (sacsin).”
SACS is the gene's official symbol. The SACS 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 SACS gene?
The SACS gene provides instructions for producing a protein called sacsin. Sacsin is found in the brain, skin cells, muscles used for movement (skeletal muscles), and at low levels in the pancreas, but the specific function of the protein is unknown. Research suggests that sacsin may play a role in folding newly produced proteins into the proper 3-dimensional shape because it shares similar regions with other proteins that perform this function.
How are changes in the SACS gene related to health conditions?
Where is the SACS gene located?
Cytogenetic Location: 13q12
Molecular Location on chromosome 13: base pairs 23,328,822 to 23,433,727
The SACS gene is located on the long (q) arm of chromosome 13 at position 12.
More precisely, the SACS gene is located from base pair 23,328,822 to base pair 23,433,727 on chromosome 13.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SACS?
You and your healthcare professional may find the following resources about SACS 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 SACS 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 SACS?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 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.