MYPN

MYPN is a component of the sarcomere that tethers nebulin (MIM 161650) in skeletal muscle and nebulette (MIM 605491) in cardiac muscle to alpha-actinin (see ACTN2; MIM 102573) at the Z lines (Bang et al., 2001 [PubMed 11309420]).[supplied by OMIM

Full Name

myopalladin

Function

Component of the sarcomere that tethers together nebulin (skeletal muscle) and nebulette (cardiac muscle) to alpha-actinin, at the Z lines.

Biological Process

Axon guidance Source: GO_Central
Dendrite self-avoidance Source: GO_Central
Homophilic cell adhesion via plasma membrane adhesion molecules Source: GO_Central
Sarcomere organization Source: BHF-UCL

Cellular Location

Nucleus
Cytoplasm 1 Publication
Other locations
sarcomere
Z line
Note: Bound to sarcomere both at the Z-line periphery and in the central I-band region.

Involvement in disease

Nemaline myopathy 11 (NEM11):
An autosomal recessive form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM11 is characterized by slowly progressive muscle weakness and atrophy, mainly affecting the lower limbs and neck. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure.
Cardiomyopathy, dilated 1KK (CMD1KK):
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Cardiomyopathy, familial hypertrophic 22 (CMH22):
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Cardiomyopathy, familial restrictive 4 (RCM4):
A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function.