SYNE2
Syne2: A Versatile Gene with Diverse Roles
Description:
Syne2, also known as nesprin-2, is a multifunctional protein that plays crucial roles in various cellular processes. It is a part of the linker of nucleoskeleton and cytoskeleton (LINC) complex, which bridges the nuclear envelope to the cytoskeleton. Syne2 has been extensively studied for its involvement in nuclear positioning, cell migration, and cell shape maintenance.
Associated Diseases:
Mutations in the SYNE2 gene have been linked to several diseases, including:
- Emery-Dreifuss Muscular Dystrophy: A rare genetic disorder characterized by progressive muscle weakness, cardiac arrhythmias, and contractures.
- Limb-Girdle Muscular Dystrophy Type 1B: Another muscle disease characterized by weakness and wasting of the muscles in the limbs and girdle area.
- Restrictive Dilated Cardiomyopathy: A condition where the heart muscle becomes stiff and enlarged, leading to heart failure.
Did you Know ?
Syne2 deficiency has been found to be associated with approximately 10% of cases of Emery-Dreifuss Muscular Dystrophy.
