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EMD gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

EMD gene

The EMD gene provides instructions for making the protein emerin, which is critical for the structural integrity of the cell nucleus and the function of skeletal and cardiac muscles.

Normal Function

The EMD gene provides instructions for making a protein called emerin. Although this protein is produced in many tissues, it is particularly important for the normal function of skeletal muscles and cardiac muscle. Within cells, emerin is a component of the nuclear envelope, the structure that surrounds the nucleus and acts as a barrier between the nucleus and the cytoplasm.

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.

Health Conditions Related to Genetic Changes

Emery-Dreifuss muscular dystrophy

More than 100 mutations in the EMD gene have been reported in people with Emery-Dreifuss muscular dystrophy. This condition affects skeletal and cardiac muscle, causing joint deformities (contractures), muscle weakness and wasting, and heart problems.

Almost all EMD gene mutations prevent cells from producing any emerin protein. An absence of emerin could disrupt the functions of other proteins in the nuclear envelope, potentially altering gene activity or weakening the structure of the nucleus, making cells more fragile. In rare cases, mutations change a single amino acid in the emerin protein, leading to an abnormal version of the protein that cannot interact with other proteins or be correctly inserted into the nuclear envelope.

Other Names for This Gene

  • EMD_HUMAN
  • emerin (Emery-Dreifuss muscular dystrophy)
  • STA

Genomic Location

The EMD gene is found on the X chromosome.

Frequently Asked Questions

definitive diagnosis requires DNA testing for mutations in the EMD gene on the X chromosome. Males with a pathogenic variant will develop the disease, while females are typically carriers and may have mild muscle or cardiac signs. Genetic counseling is essential to discuss carrier testing for female relatives and prenatal or pre‑implantation options.
Regular cardiac evaluation is critical because conduction defects are common. Baseline ECG, Holter monitoring, and echocardiogram are recommended at diagnosis, followed by at least annual ECGs and Holters. Early implantation of a pacemaker or defibrillator may be needed if arrhythmias are detected.
Gentle, low‑impact stretching and range‑of‑motion exercises performed daily can slow contracture formation. Aquatic therapy, assisted cycling, and supervised strengthening of proximal muscles are generally safe. High‑impact or forced stretching that stresses the spine or elbows should be avoided. A therapist experienced with muscular dystrophy should design the program.
Research is investigating gene‑replacement strategies using viral vectors and antisense oligonucleotides to restore emerin expression. Small‑molecule drugs that stabilize the nuclear envelope are also in early‑phase trials. Participation in a clinical trial should be considered after discussion with a neuromuscular specialist.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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