MYOT Gene
Myotilin: A Key Player in Muscular Dystrophy and Myofibrillar Myopathy
Gene Information Card
| Symbol | MYOT |
|---|---|
| Full Name | myotilin |
| Gene Type | protein coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 9499 ncbi.nlm.nih.gov/gene/9499 |
| Ensembl ID | ENSG00000120729 |
| UniProt ID | Q9UBF9 |
| OMIM ID | 604103 |
| HGNC ID | 12399 |
| Aliases | TTID, LGMD1A, MFM3 |
Description
The MYOT gene encodes myotilin, a sarcomeric protein predominantly expressed in skeletal and cardiac muscle. Myotilin is involved in the stabilization and assembly of thin filaments by binding to actin and alpha-actinin. Mutations in MYOT are associated with myofibrillar myopathy 3 (MFM3) and limb-girdle muscular dystrophy type 1A (LGMD1A), characterized by progressive muscle weakness and myofibrillar disorganization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myofibrillar myopathy 3 (MFM3) | Mutations in MYOT lead to aggregation of myotilin and other sarcomeric proteins, disrupting myofibril integrity and causing muscle fiber degeneration. | ClinVar, OMIM |
| Limb-girdle muscular dystrophy type 1A (LGMD1A) | Dominant-negative mutations in MYOT impair actin binding and sarcomere assembly, resulting in progressive proximal muscle weakness. | OMIM, NCBI |
| Spheroid body myopathy | Accumulation of myotilin-positive spheroid bodies in muscle fibers due to MYOT mutations, leading to myopathic changes. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 62.8 | High |
| Heart muscle | 28.5 | Medium |
| Esophagus | 6.2 | Low |
| Adipose tissue | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myoblasts | 45.3 | High expression in differentiated myotubes |
| Cardiomyocytes | 22.1 | Moderate expression |
| Fibroblasts | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.179C>T (p.Ser60Phe) | Missense | Rare | Dominant-negative; associated with LGMD1A |
| c.418G>A (p.Glu140Lys) | Missense | Rare | Causes myofibrillar myopathy with protein aggregation |
| c.1187G>A (p.Arg396Gln) | Missense | Rare | Linked to spheroid body myopathy |
Mutation functional classification
Loss of Function (LOF)
Not commonly reported; most MYOT mutations are dominant-negative or gain-of-function.
Gain of Function (GOF)
Mutations promote abnormal aggregation of myotilin and other sarcomeric proteins.
Dominant Negative (DN)
Common mechanism; mutant myotilin interferes with wild-type protein function, disrupting actin binding and sarcomere assembly.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • structural constituent of muscle |
| • Z disc | • sarcomere organization |
| • muscle contraction |
Pathways
• Sarcomere assembly
• Striated muscle contraction
Protein Summary
Myotilin is a 57 kDa sarcomeric protein localized to the Z-disc of striated muscle. It contains two immunoglobulin-like domains and binds to actin, alpha-actinin, and filamin C, contributing to thin filament stabilization. Mutations cause protein aggregation and myofibrillar disorganization, leading to progressive myopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYOT Knockout HEK293 Cell Line | EDJ-KQ2958 | Human | 9499 | Details Get a Quote |
| MYOT Knockout HeLa Cell Line | EDJ-KQ55181 | Human | 9499 | Details Get a Quote |
| MYOT Knockout A-549 Cell Line | EDJ-KQ63660 | Human | 9499 | Details Get a Quote |
| MYOT Knockout HCT 116 Cell Line | EDJ-KQ72121 | Human | 9499 | Details Get a Quote |
