Desmin Polyclonal Antibody, 50ul[BT-AP02570] DNA Libraries Synthesis Mutations in this gene are

Mutations in this gene are associated with platelet-type bleeding disorders| which are characterized by a failure of platelet aggregation| including Glanzmann thrombasthenia

The protein is a seven-span transmembrane protein and a member of the secretin receptor family

The BTB/POZ domain mediates homomeric and heteromeric POZ-POZ interactions and is common to transcriptional regulators involved in chromatin modeling

Belongs to the FILIP1 family

Desmin Polyclonal Antibody, 50ul[BT-AP02570] DNA Libraries Synthesis Mutations in this gene areDES encodes a muscle specific class III intermediate filament. Homopolymers of desmin form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in DES are associated with desmin related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies.