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EIF2AK4 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

EIF2AK4 gene

The EIF2AK4 gene provides instructions for a protein that helps cells respond to stress by regulating protein production.

Normal Function

The EIF2AK4 gene provides instructions for making a protein that helps direct a cell's response to changes that could damage the cell. This protein is found in several tissues throughout the body, including blood vessel walls. The EIF2AK4 protein can turn on (activate) another protein called eIF2 alpha (eIF2α), which helps control protein production.

When cells are under stress, for example when the level of protein building blocks (amino acids) is too low, EIF2AK4 activates eIF2α. When turned on, eIF2α stimulates processes that reduce protein production, which helps conserve amino acids. In addition, activated eIF2α can trigger production of certain proteins called transcription factors, which control gene activity. The transcription factors regulated by eIF2α control the activity of genes involved in processes that help reduce the stress on the cell.

Health Conditions Related to Genetic Changes

Pulmonary veno-occlusive disease

Mutations in the EIF2AK4 gene are the primary genetic cause of a condition called pulmonary veno-occlusive disease (PVOD); at least 22 mutations in this gene have been found in affected individuals.

  • In PVOD, excess fibrous tissue builds up in the small vessels in the lungs that carry oxygenated blood from the lungs to the heart (the pulmonary veins).
  • This buildup narrows (occludes) the vessels and impairs blood flow.
  • Because blood flow through the lungs is difficult, pressure rises in the vessels that carry blood that needs to be oxygenated to the lungs from the heart (pulmonary arteries). Increased pressure in these vessels is known as pulmonary arterial hypertension.

The EIF2AK4 gene mutations involved in PVOD likely lead to a complete loss of functional protein. It is not known how absence of EIF2AK4 protein function leads to the pulmonary vein abnormalities characteristic of PVOD.

Frequently Asked Questions

Vasodilator therapies used for other forms of pulmonary arterial hypertension (e.g., endothelin receptor antagonists, phosphodiesterase‑5 inhibitors) can precipitate pulmonary edema in PVOD. The mainstay of therapy is careful fluid management, oxygen, and early referral for lung transplantation, which remains the definitive treatment for many patients with EIF2AK4‑related PVOD.
EIF2AK4‑related PVOD follows an autosomal‑recessive pattern. Both parents must carry one mutated copy for a child to be affected. If a parent is a carrier, each pregnancy carries a 25 % chance of an affected child, a 50 % chance of a carrier child, and a 25 % chance of an unaffected, non‑carrier child.
Yes. Because pathogenic EIF2AK4 variants are the primary cause of heritable PVOD, testing can confirm a genetic diagnosis, guide treatment decisions, and allow at‑risk relatives to be screened early. Testing is usually done with a blood sample and analyzed by a clinical genetics laboratory; counseling before and after testing is recommended.
While no lifestyle modification can halt the underlying fibrotic process, avoiding high‑altitude exposure, smoking, and uncontrolled infections can reduce additional stress on the pulmonary vasculature. Maintaining a low‑salt diet and regular follow‑up with a pulmonary hypertension specialist help manage symptoms and detect complications early.
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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