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ITM2B gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ITM2B gene

The ITM2B gene provides instructions for producing the integral membrane protein 2B, which plays a role in cellular processes and is linked to specific forms of hereditary dementia.

Normal Function

The ITM2B gene provides instructions for producing a protein called the integral membrane protein 2B (ITM2B), which is found in all tissues. While the exact function of the ITM2B protein is unclear, it is thought to play a role in triggering the self-destruction of cells (apoptosis) and in suppressing tumor formation by preventing cells from growing and dividing uncontrollably.

Additionally, the ITM2B protein may be involved in processing the amyloid precursor protein, which is produced by the APP gene. Research suggests that the ITM2B protein helps prevent a form of the amyloid precursor protein from accumulating in the body's cells and tissues.

Health Conditions Related to Genetic Changes

Hereditary cerebral amyloid angiopathy

Two variants (mutations) in the ITM2B gene have been found to cause hereditary cerebral amyloid angiopathy. When caused by these variants, the condition is characterized by movement problems and a decline in intellectual function (dementia). This includes two specific forms:

  • Familial British dementia
  • Familial Danish dementia

These variants result in the production of elongated precursor proteins, known as ABri or ADan, respectively. These proteins have altered 3-dimensional shapes that make them prone to clustering together (aggregating). These aggregated proteins form clumps called amyloid deposits, which accumulate in specific areas of the brain and its blood vessels.

The amyloid deposits trigger the activation of the complement system—a group of immune system proteins—and other immune reactions. These processes destroy pathogens, trigger inflammation, and remove debris, but they also lead to cell death and tissue damage in the brain, underlying the signs and symptoms of these dementias.

Other Names for This Gene

  • ABRI
  • BRI2
  • BRICD2B
  • E25B
  • ITM2B_HUMAN

Frequently Asked Questions

Families can receive pre‑test counseling to understand inheritance patterns, which are autosomal dominant. Post‑diagnosis counseling helps interpret test results, discuss reproductive options (such as pre‑implantation genetic diagnosis), and plan for long‑term care. Genetic counselors can also connect families with support groups and research studies focused on hereditary cerebral amyloid angiopathy.
Diagnosis typically involves a combination of clinical assessment, neuroimaging (MRI or CT scans showing amyloid deposits or vessel changes), and genetic testing to identify pathogenic ITM2B variants. A lumbar puncture may also be performed to analyze cerebrospinal fluid for amyloid markers. Confirmation requires both a characteristic clinical picture and a detected mutation in the ITM2B gene.
While no cure exists, certain strategies may help manage symptoms and potentially slow decline. Regular cardiovascular exercise, a heart‑healthy diet, and controlling blood pressure and cholesterol can reduce vascular stress. Cognitive training, social engagement, and routine medical monitoring for seizures or strokes are also recommended. Some patients may benefit from medications that target amyloid accumulation, though these are still under investigation.
Patients with ITM2B‑associated hereditary cerebral amyloid angiopathy often first notice subtle cognitive changes such as memory lapses, difficulty concentrating, or mild confusion. Movement problems may appear as tremors, stiffness, or coordination difficulties. These symptoms usually emerge in the third or fourth decade of life and can progress gradually. Early neurological evaluations, including cognitive testing and brain imaging, can help identify these changes before more severe symptoms develop.
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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