DYSF dysferlin
Gene ID: 8291, updated on 2-Nov-2024Gene type: protein coding
Also known as: MMD1; FER1L1; LGMD2B; LGMDR2
- See all available tests in GTR for this gene
- Go to complete Gene record for DYSF
- Go to Variation Viewer for DYSF variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies protein quantitative trait loci (pQTLs). GeneReviews: Not available | |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | See labs |
| Distal myopathy with anterior tibial onset | See labs |
| Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. GeneReviews: Not available | |
| Limb-girdle muscular dystrophy MedGen: C0686353GeneReviews: Not available | See labs |
| Miyoshi muscular dystrophy 1 | See labs |
Genomic context
- Location:
- 2p13.2
- Sequence:
- Chromosome: 2; NC_000002.12 (71453561..71686763)
- Total number of exons:
- 58
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DYSF variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DYSF homepage - Leiden Muscular Dystrophy pages
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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