EMD : emerin

Description

The EMD (emerin) is a protein-coding gene located on chromosome X.

The EMD gene provides instructions for making a protein called emerin. Although this protein is produced in many tissues, it appears to be particularly important for the normal function of muscles used for movement (skeletal muscles) and the heart (cardiac muscle).Within cells, emerin is a component of the nuclear envelope. The nuclear envelope is a structure that surrounds the nucleus, acting as a barrier between the nucleus and the surrounding fluid (cytoplasm) inside the cell. The nuclear envelope has several functions, including regulating the movement of molecules into and out of the nucleus.Emerin interacts with several other proteins on the inner surface of the nuclear envelope. Together, these proteins are involved in regulating the activity of certain genes, controlling cell division and chemical signaling, and maintaining the structure and stability of the nucleus. Emerin and related proteins also play a role in assembling the nucleus during the process of cell division.

Emerin plays a crucial role in the formation and stabilization of a nuclear actin network. It promotes the growth of actin filaments by binding to their pointed ends. Emerin inhibits the activity of beta-catenin by preventing its accumulation in the nucleus, likely through a CRM1-dependent export pathway. Emerin connects centrosomes to the nuclear envelope via microtubule association and ensures the proper localization of non-farnesylated prelamin-A/C. In germ cells, emerin, in conjunction with NEMP1, contributes to nuclear envelope stiffness. Emerin and BAF function as cooperative cofactors in HIV-1 infection. The association of emerin with viral DNA is dependent on the presence of BAF and viral integrase. Furthermore, the association of viral DNA with chromatin requires the presence of both BAF and emerin.

EMD is also known as EDMD, LEMD5, STA.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing