DYSF (Dysferlin) Gene
Dysferlin: Key Regulator of Membrane Repair and Muscle Integrity
Gene Information Card
| Symbol | DYSF |
|---|---|
| Full Name | dysferlin |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.2 |
| NCBI Gene ID | 8291 ncbi.nlm.nih.gov/gene/8291 |
| Ensembl ID | ENSG00000135636 |
| UniProt ID | O75923 |
| OMIM ID | 603009 |
| HGNC ID | 3097 |
| Aliases | FER1L1, LGMD2B, MMD1, FLJ00175 |
Description
The DYSF gene encodes dysferlin, a large transmembrane protein involved in calcium-dependent membrane fusion and repair. Dysferlin is essential for resealing sarcolemmal disruptions in skeletal and cardiac muscle. Mutations in DYSF cause autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy, characterized by progressive muscle weakness and atrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) | Loss of dysferlin impairs sarcolemmal repair, leading to muscle fiber degeneration | ClinVar, OMIM |
| Miyoshi Myopathy (MMD1) | Defective membrane resealing in distal muscles due to dysferlin deficiency | ClinVar, OMIM |
| Distal Myopathy with Anterior Tibial Onset | Dysferlin deficiency causes early distal muscle weakness | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 32.5 | High |
| Heart | 15.2 | Medium |
| Placenta | 8.1 | Medium |
| Lung | 4.3 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal Muscle Myoblasts | 28.7 | High expression |
| Cardiomyocytes | 14.5 | Moderate expression |
| HEK293 | 2.1 | Low expression |
| HeLa | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.4022C>T (p.Thr1341Met) | Missense | Common in LGMD2B | Impaired membrane repair |
| c.2875C>T (p.Arg959Trp) | Missense | Found in Miyoshi myopathy | Reduced protein stability |
| c.5979delA (p.Glu1994Lysfs*15) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most DYSF mutations cause loss of dysferlin protein or function, leading to defective membrane repair.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described; all pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:250254 – Membrane repair pathway
• REACT:111045 – Calcium-dependent membrane fusion
Protein Summary
Dysferlin is a 230 kDa transmembrane protein with multiple C2 domains that bind calcium and phospholipids. It localizes to the sarcolemma and T-tubules, where it mediates vesicle fusion to reseal membrane disruptions. Dysferlin also interacts with annexins and calpain-3. Deficiency leads to progressive muscular dystrophies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DYSF Knockout HEK293 Cell Line | EDJ-KQ2041 | Human | 8291 | Details Get a Quote |
| DYSF Knockout HeLa Cell Line | EDJ-KQ54847 | Human | 8291 | Details Get a Quote |
| DYSF Knockout A-549 Cell Line | EDJ-KQ63336 | Human | 8291 | Details Get a Quote |
| DYSF Knockout HCT 116 Cell Line | EDJ-KQ71806 | Human | 8291 | Details Get a Quote |
