Dysferlin
Encyclopedia
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 skeletal muscle
repair. A defect in the DYSF gene, located on chromosome
2p12-14, results in either of two types of muscular dystrophy
; Miyoshi myopathy (MM) and Limb-girdle muscular dystrophy
type 2B (LGMD2B). A reduction or absence of dysferlin usually becomes apparent in the third or fourth decade of life and is characterised by weakness and wasting of various voluntary skeletal muscles.
with Caveolin 3
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the DYSF gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Dysferlin is linked with skeletal muscle
Skeletal muscle
Skeletal muscle is a form of striated muscle tissue existing under control of the somatic nervous system- i.e. it is voluntarily controlled. It is one of three major muscle types, the others being cardiac and smooth muscle...
repair. A defect in the DYSF gene, located on chromosome
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
2p12-14, results in either of two types of muscular dystrophy
Muscular dystrophy
Muscular dystrophy is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.In the 1860s, descriptions of boys who...
; Miyoshi myopathy (MM) and Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy or Erb's muscular dystrophy is an autosomal class of muscular dystrophy that is similar but distinct from Duchenne muscular dystrophy and Becker's muscular dystrophy...
type 2B (LGMD2B). A reduction or absence of dysferlin usually becomes apparent in the third or fourth decade of life and is characterised by weakness and wasting of various voluntary skeletal muscles.
Interactions
Dysferlin has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with Caveolin 3
Caveolin 3
Caveolin-3 is a protein that in humans is encoded by the CAV3 gene.-Interactions:Caveolin 3 has been shown to interact with Epidermal growth factor receptor, Dysferlin and Dystroglycan.-Further reading:...
.
External links
- GeneReviews/NCBI/NIH/UW entry on Dysferlinopathy including Miyoshi Distal Myopathy (Miyoshi Myopathy), Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B)
- LOVD mutation database: DYSF
- The Jain Foundation is focused on finding a cure for dysferlin deficiency. The foundation is sponsoring targeted research and helping to educate patients on the importance of determining the mutations they carry in their dysferlin gene.