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TREM2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TREM2 gene

The TREM2 gene provides instructions for a protein that helps regulate immune responses and bone remodeling, with variants linked to a rare neurological and skeletal disorder.

Normal Function

The TREM2 gene provides instructions for making a protein called triggering receptor expressed on myeloid cells 2 (TREM2). This protein is made in myeloid cells, which are produced in bone marrow. TREM2 is found on the cell surface, where it interacts with the protein produced from the TYROBP gene to form a complex that transmits chemical signals to activate the cell.

The TYROBP-TREM2 complex is involved in several key biological processes:

  • Immune Response: It is involved in the growth and development of immune cells, particularly dendritic cells, triggering an inflammatory response to injury or disease.
  • Bone Remodeling: In the skeletal system, the complex is found in osteoclasts, which break down and remove bone tissue that is no longer needed.
  • Central Nervous System: In the brain and spinal cord, the complex plays an important role in immune cells called microglia, which protect the nervous system from foreign invaders and remove dead nerve cells and debris.

Health Conditions Related to Genetic Changes

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Variants in the TREM2 gene have been identified in people with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (commonly known as PLOSL). These variants may prevent the production of TREM2 proteins, result in a nonfunctional version of the protein, or prevent the protein from reaching the cell surface.

Researchers believe the signs and symptoms of PLOSL are related to defective TYROBP-TREM2 signaling:

  • Bone Abnormalities: Malfunctioning osteoclasts are less able to resorb bone tissue during the remodeling process.
  • Neurological Problems: Defective signaling causes widespread abnormalities of microglia in the central nervous system.

Other Names for This Gene

  • TREM-2
  • TREM2_HUMAN
  • Trem2a
  • Trem2b
  • Trem2c
  • triggering receptor expressed on monocytes 2
  • triggering receptor expressed on myeloid cells 2a

Frequently Asked Questions

TREM2 loss impairs osteoclast signaling, reducing bone resorption and causing abnormal bone remodeling. Radiographs typically reveal osteosclerosis, cystic lesions, and thickened cortical bone, especially in the long bones and skull. A full skeletal survey or CT scan is advised to assess the extent of sclerosing changes.
Currently, no approved disease‑modifying therapy exists. Management focuses on symptomatic care: physical therapy for mobility, antiepileptic drugs if seizures occur, and neuropsychiatric support. Ongoing clinical trials are evaluating microglial modulators and anti‑inflammatory agents that may benefit TREM2‑related neurodegeneration, but participation should be discussed with a specialist.
Because PLOSL is autosomal‑recessive, siblings have a 25 % risk of being affected if both parents are carriers. Genetic counseling is essential to explain carrier testing, reproductive options, and the variable penetrance of TREM2 variants. Testing of at‑risk relatives is advised, especially if they exhibit early bone or neurologic symptoms.
The first signs often appear in the second or third decade of life and include subtle cognitive decline, difficulty with executive tasks, mood changes, and mild gait instability. Some patients report early loss of fine motor skills or frequent falls before overt dementia becomes apparent.
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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