FLNC is a muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross-linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z-disks in muscle cells. Defects in FLNC are the cause of autosomal dominant filaminopathy. Myofibrillar myopathy (MFM) is a neuromuscular disorder, usually with an adult onset, characterized by focal myofibrillar destruction and pathological cytoplasmic protein aggregations. Autosomal dominant filaminopathy is a form of MFM characterized by morphological features of MFM and clinical features of a limb-girdle myopathy. A heterozygous nonsense mutation which segregates with the disease, has been identified in the FLNC gene.

Codice: PDEH100853_100μg | Marca: Elabscience | Confezionamento: 100μg