MYPN

Description

The MYPN (myopalladin) is a protein-coding gene located on chromosome 10.

Myopalladin is a protein essential for muscle function, encoded by the MYPN gene in humans. It plays a crucial role in sarcomere assembly and gene regulation. Myopalladin is a large protein, weighing in at 145.2 kDa, and is composed of 1320 amino acids. It features five Ig-like repeats and a proline-rich domain. Myopalladin acts as a bridge, linking the Z-disc to other proteins like nebulette and nebulin via its C-terminal domain, and to alpha-actinin via its EF hand domains. Additionally, its N-terminal region interacts with the nuclear protein CARP, involved in gene expression regulation in muscle. Studies of MYPN mutations linked to cardiomyopathies have revealed that myopalladin is involved in recruiting crucial proteins like desmin, alpha-actinin, and CARP to the Z-disc during myofibrilogenesis. Myopalladin is found in both the nucleus and the sarcomere/I-bands of muscle, highlighting its dual roles in sarcomere assembly and gene regulation.

MYPN is also known as CMD1DD, CMH22, CMYO24, CMYP24, MYOP, NEM11, RCM4.

Associated Diseases

• Familial isolated restrictive cardiomyopathy
• Familial isolated dilated cardiomyopathy
• Nemaline myopathy 11, autosomal recessive
• Childhood-onset nemaline myopathy
• Cardiomyopathy, dilated, 1KK
• Cap myopathy