MYOT : myotilin

Description

The MYOT (myotilin) is a protein-coding gene located on chromosome 5.

The MYOT gene provides instructions for making the myotilin protein, essential for the structure and function of both cardiac and skeletal muscles. Myotilin resides within sarcomeres, the contractile units of muscle fibers, and plays a crucial role in their assembly and connection. It binds to other proteins to help form sarcomeres and links them together, forming myofibrils, the fundamental building blocks of muscle fibers. This interconnected network ensures muscle fiber strength during repeated cycles of contraction and relaxation.

Myotilin forms a complex with several actin cross-linking proteins, playing a crucial role in regulating myofibril assembly and stability at the Z lines within muscle cells.

MYOT is also known as LGMD1, LGMD1A, MFM3, TTID, TTOD.

Associated Diseases

• Distal myotilinopathy
• Autosomal dominant limb-girdle muscular dystrophy type 1A
• Myopathy, myofibrillar, 3
• Myofibrillar myopathy
• Limb-girdle muscular dystrophy