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RNF213 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RNF213 gene

The RNF213 gene provides instructions for a protein that may play a role in blood vessel development and protein degradation within cells.

Normal Function

The RNF213 gene provides instructions for the RNF213 protein, which is found in tissues throughout the body. While its exact function is unknown, it contains domains that suggest specific activities:

  • RING finger domain: Associated with E3 ubiquitin-protein ligase activity, which targets proteins for degradation. This process removes damaged or unnecessary proteins to maintain cellular health.
  • AAA+ ATPase domains: Typically regulate mechanical processes such as protein unfolding, DNA unwinding, or molecular transport.

Studies suggest the RNF213 protein plays a role in the proper development of blood vessels.

Health Conditions Related to Genetic Changes

Moyamoya disease

At least 24 genetic changes in the RNF213 gene have been associated with moyamoya disease, a condition characterized by the narrowing of blood vessels in the brain and the subsequent growth of fragile, small vessel networks. This leads to reduced blood flow, which can cause strokes.

  • Arg4810Lys (R4810K): This is the most common genetic change associated with the disease in Asian populations. It exhibits reduced penetrance, meaning some individuals with the variant never develop the condition.
  • European populations: The Arg4810Lys change is not found in affected individuals of European descent, who instead carry rarer RNF213 mutations.

The exact mechanism by which these mutations contribute to blood vessel abnormalities remains unclear. People with the disease often show elevated levels of proteins involved in angiogenesis, but it is not yet known if RNF213 mutations directly cause this overproduction. Other factors, such as inflammation or infection, may also be required for the disease to develop.

Other Names for This Gene

  • ALK lymphoma oligomerization partner on chromosome 17
  • ALO17
  • C17orf27
  • E3 ubiquitin-protein ligase RNF213
  • KIAA1554
  • KIAA1618
  • MYMY2
  • mysterin
  • MYSTR
  • NET57
  • RN213_HUMAN

Frequently Asked Questions

If you have a first‑degree relative with moyamoya disease, especially with a known RNF213 pathogenic variant, predictive testing can clarify your own risk. Because the R4810K change has reduced penetrance, a positive result does not guarantee disease, but it allows for baseline vascular imaging (MRI/MRA) and closer monitoring. Discuss testing with a genetics counselor to weigh benefits, limitations, and insurance coverage.
While no specific diet or exercise regimen has been proven to prevent moyamoya, maintaining optimal cardiovascular health is advisable: control blood pressure, avoid smoking, limit excessive alcohol, and manage cholesterol. Regular follow‑up imaging (every 1–2 years) can detect early vessel narrowing, allowing timely surgical or medical intervention.
Pregnancy itself does not appear to increase the likelihood of moyamoya progression, but the physiological stress of pregnancy can unmask cerebrovascular insufficiency. Close monitoring with neurologic assessment and possibly MRI/MRA in the second trimester is recommended. The variant is inherited in an autosomal‑dominant pattern with reduced penetrance, so the child has a 50 % chance of inheriting the mutation, but many carriers never develop disease. Genetic counseling before or during pregnancy is essential.
The most common warning signs are transient neurological symptoms such as sudden weakness or numbness on one side, speech difficulties, visual disturbances, or brief episodes of headache with nausea. These can represent transient ischemic attacks. If any of these occur, seek emergency evaluation because prompt imaging and possible revascularization can prevent stroke.
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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