MYOF myoferlin
Gene ID: 26509, updated on 6-Oct-2024Gene type: protein coding
Also known as: HAE7; FER1L3
- See all available tests in GTR for this gene
- Go to complete Gene record for MYOF
- Go to Variation Viewer for MYOF variants
Summary
Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Angioedema, hereditary, 7 | not available |
Genomic context
- Location:
- 10q23.33
- Sequence:
- Chromosome: 10; NC_000010.11 (93306429..93482334, complement)
- Total number of exons:
- 59
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MYOF variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- Variation ViewerRelated Variants
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