DYSF

Also known as FER1L1, LGMD2B, MMD1, dysferlin, LGMDR2

Dysferlin also known as dystrophy-associated fer-1-like protein is a protein that in humans is encoded by the DYSF gene. Dysferlin is linked with plasma membrane repair., stabilization of calcium signaling and the development of the T-tubule system of the muscle A defect in the DYSF gene, located on chromosome 2p12-14, results in several types of muscular dystrophy; including Miyoshi myopathy (MM), Limb-girdle muscular dystrophy type 2B (LGMD2B) and Distal Myopathy (DM). A reduction or absence of dysferlin, termed dysferlinopathy, usually becomes apparent in the third or fourth decade of life

Gene data

DYSF

Name: dysferlin
Type: protein-coding
Position: 71,453,561–71,686,763 (+)
Aliases: FER1L1, LGMD2B, LGMDR2, MMD1
Ensembl: ENSG00000135636
RefSeq RNA: NM_001130455.2, NM_001130976.2, NM_001130977.2, NM_001130978.2, NM_001130979.2
RefSeq protein: NP_001123927.1, NP_001124448.1, NP_001124449.1, NP_001124450.1, NP_001124451.1

The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008].