DYSF

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]

Description

Dysferlin

Tissue specificity

Tissue enhanced (skeletal muscle)

Subcell location

Plasma membrane, Centriolar satellite

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

2 (71453722 - 71686768)

Ensembl ID

ENSG00000135636  (ver. 103.38)

Orthologs

Mouse Dysf: ENSMUSG00000033788

UniProt

O75923

neXtProt

NX_O75923

Human splice variants
Mouse splice variants

Protein structure