MYOT (Myotilin) is a Z-disc protein that plays a critical role in sarcomere organization and maintenance. It interacts with alpha-actinin, filamin C, and other cytoskeletal proteins. Myotilin is a key component of the sarcomere and mutations cause myofibrillar myopathy characterized by cytoplasmic inclusions.
| Property | Value |
|---|---|
| Gene Symbol | MYOT |
| Gene Name | Myotilin |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 4659 |
| OMIM | 607740 |
| UniProt | Q9UBF6 |
MYOT (Myotilin) is a Z-disc protein that plays a critical role in sarcomere organization and maintenance. It interacts with alpha-actinin, filamin C, and other cytoskeletal proteins. Myotilin is a key component of the sarcomere and mutations cause myofibrillar myopathy characterized by cytoplasmic inclusions.
The MYOT gene is associated with the following neurodegenerative and related diseases:
MYOT expression and its relevance to brain function is under active investigation.