Enaptin

Enaptin is a protein that in humans is encoded by the ENAH gene. It is a large protein that is part of the nuclear envelope, which surrounds the nucleus in cells. Enaptin is also known as Nesprin-1, a member of the Nesprin family of proteins.

Structure[edit | edit source]

Enaptin is a type of spectrin repeat containing protein that is located in the outer nuclear membrane. It has a KASH domain at its C-terminus, which allows it to interact with SUN proteins in the inner nuclear membrane. This interaction forms the LINC complex, which connects the nucleus to the cytoskeleton.

Function[edit | edit source]

Enaptin plays a crucial role in maintaining the structure and function of the nucleus. It helps to anchor the nucleus in the cell and is involved in nuclear movement and positioning. Enaptin also plays a role in mechanotransduction, the process by which cells convert mechanical stimuli into biochemical signals.

Clinical significance[edit | edit source]

Mutations in the ENAH gene that encodes Enaptin can lead to various diseases. For example, they have been associated with Emery-Dreifuss muscular dystrophy, a condition characterized by muscle weakness and stiffness, and cardiomyopathy, a disease of the heart muscle.