DSC3
Description
DSC3, or Desmocollin-3, is a transmembrane protein that plays a crucial role in cell-cell adhesion. It forms part of the desmosome, a specialized intercellular junction that provides structural support and communication between cells. DSC3 contributes to the integrity of epithelial tissues, such as skin and heart, and is essential for maintaining tissue homeostasis. Its role in cell signaling pathways and its interaction with other desmosomal proteins make it a significant player in tissue development and function.
Associated Diseases
- Pemphigus vulgaris: An autoimmune disease characterized by blistering of the skin and mucous membranes. Autoantibodies target desmosomal proteins, including DSC3.
- Arrhythmogenic right ventricular cardiomyopathy (ARVC): A genetic heart disorder causing abnormalities in the heart muscle, leading to potentially life-threatening arrhythmias. Mutations in DSC3 have been linked to ARVC.
- Palmoplantar keratoderma: A group of disorders causing thickening and scaling of the palms and soles of the feet. Some cases are associated with mutations in DSC3.
Did you know?
DSC3 is a member of the cadherin family, a large group of proteins involved in cell-cell adhesion. This family is known for its diverse roles in development, tissue organization, and disease.
