FLNC

Filamin C is a muscle-specific actin-crosslinking protein that plays a central role in sarcomere assembly and organization at the Z lines in muscle cells. Mutations cause autosomal dominant cardiac conditions including arrhythmogenic right ventricular dysplasia, hypertrophic cardiomyopathy, restrictive cardiomyopathy, and skeletal muscle disorders including distal and myofibrillar myopathies. The gene is highly constrained against loss-of-function variation, indicating that maintaining proper protein levels is critical for normal muscle function.