The DYSF gene provides instructions for making a protein called dysferlin. This protein is found in the thin membrane that surrounds muscle fibers, which is called the sarcolemma. Dysferlin is thought to play an important role in repairing the sarcolemma when it becomes damaged due to muscle strain. Researchers suggest that dysferlin may also be involved in transporting materials within muscle fibers. Dysferlin may also work together with calcium to regulate cell signaling pathways.
Other Names
FER1L1
Related Genetics Topics
Identifiers
- NCBI Gene: 8291
- OMIM: 603009
- OMIM: 606768
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
