ACTN2
Function
F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
Involvement in disease
Cardiomyopathy, familial hypertrophic, 23, with or without left ventricular non-compaction
CMH23
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Cardiomyopathy, dilated, 1AA, with or without left ventricular non-compaction
CMD1AA
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
None
The disease is caused by variants affecting the gene represented in this entry.
Congenital myopathy 8
CMYO8
An autosomal dominant muscular disorder characterized by progressive early-onset muscle weakness, gait difficulties, loss of ambulation, and respiratory insufficiency. Morphological and ultrastructural analyses of muscle biopsies reveal type 1 fiber predominance, multiple structured cores forming a circular arrangement beneath the sarcolemma, and jagged Z-lines.
None
The disease is caused by variants affecting the gene represented in this entry.
Myopathy, distal, 6, adult onset, autosomal dominant
MPD6
An autosomal dominant muscular disorder characterized by adult onset of asymmetric distal muscle weakness, primarily affecting the lower limbs and resulting in gait difficulties. Some patients develop involvement of proximal and upper limb muscles.
None
The disease is caused by variants affecting the gene represented in this entry.
Defects in ACTN2 may be the cause of an autosomal recessive myopathy characterized by asymmetric, progressive muscle weakness predominantly affecting the lower extremities. Patients do not manifest cardiomyopathy or respiratory insufficiency. Muscle biopsy reveals disruption of the inter-myofibrillar architecture, type I fiber predominance and atrophy.
Post-translational modifications
Ubiquitinated by FBXL22, leading to proteasomal degradation.
Sequence Similarities
Belongs to the alpha-actinin family.
Tissue Specificity
Expressed in both skeletal and cardiac muscle.
Cellular localization
- Cytoplasm
- Myofibril
- Sarcomere
- Z line
- Colocalizes with MYOZ1 and FLNC at the Z-lines of skeletal muscle.
Alternative names
Alpha-actinin-2, Alpha-actinin skeletal muscle isoform 2, F-actin cross-linking protein, ACTN2