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Reviewed April 2011
What is the official name of the DYSF gene?
The official name of this gene is “dysferlin.”
DYSF is the gene's official symbol. The DYSF 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 DYSF gene?
The DYSF gene provides instructions for making a protein called dysferlin. The specific function of this protein is not well understood. It is believed to be involved in repairing damage to muscle cells. It may help fuse gaps in muscle cell membranes by interacting with other molecules, including proteins called calpain-3 and caveolin-3. Researchers suggest that dysferlin may also be involved in the maturation of new muscle fibers (regeneration).
How are changes in the DYSF gene related to health conditions?
Where is the DYSF gene located?
Cytogenetic Location: 2p13.3
Molecular Location on chromosome 2: base pairs 71,453,293 to 71,686,762
The DYSF gene is located on the short (p) arm of chromosome 2 at position 13.3.
More precisely, the DYSF gene is located from base pair 71,453,293 to base pair 71,686,762 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about DYSF?
You and your healthcare professional may find the following resources about DYSF 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 DYSF 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 DYSF?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 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.