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

GFAP gene

The GFAP gene provides instructions for making the glial fibrillary acidic protein, which is essential for the structural integrity and function of astroglial cells in the brain and spinal cord.

Normal Function

The GFAP gene provides instructions for making a protein called glial fibrillary acidic protein. This protein is a member of the intermediate filament family of proteins, which form networks that provide support and strength to cells. Several molecules of glial fibrillary acidic protein bind together to form the type of intermediate filament found in astroglial cells. Astroglial cells support and nourish cells in the brain and spinal cord. If brain or spinal cord cells are injured through trauma or disease, astroglial cells react by rapidly producing more glial fibrillary acidic protein.

Although its function is not fully understood, glial fibrillary acidic protein is likely involved in controlling the shape, movement, and function of astroglial cells. Some researchers have suggested that astroglial cells play an important role in the functioning of other cells, including specialized cells that surround nerves (oligodendrocytes) and are involved in the production and long-term maintenance of myelin. Myelin is the fatty substance that forms a protective coating around certain nerve cells and ensures the rapid transmission of nerve impulses. Additionally, astroglial cells may assist in maintaining the protective barrier that allows only certain substances to pass between blood vessels and the brain (the blood-brain barrier).

Health Conditions Related to Genetic Changes

Alexander disease

Researchers have identified more than 50 GFAP mutations that cause Alexander disease. Most of these mutations change one of the building blocks (amino acids) used to make glial fibrillary acidic protein, while a few mutations add or remove two amino acids. All of these changes alter the structure of the protein, which likely disturbs the formation of normal intermediate filaments. As a result, the abnormal glial fibrillary acidic protein may accumulate in astroglial cells, contributing to the formation of Rosenthal fibers, which impair cell function. It is not well understood how impaired astroglial cells contribute to the abnormal maintenance of myelin, causing the signs and symptoms of Alexander disease.

Other Names for This Gene

  • FLJ45472
  • GFAP_HUMAN
  • Glial Intermediate Filament Protein

Frequently Asked Questions

Yes, Alexander disease is definitively diagnosed through genetic testing that identifies pathogenic variants in the GFAP gene. The process usually involves a blood or saliva sample to extract DNA. Laboratory analysis then sequences the GFAP gene to look for specific mutations. While imaging tests like MRI can show characteristic brain changes that raise suspicion, only genetic testing can confirm the diagnosis and distinguish it from other leukodystrophies.
The GFAP gene provides instructions for making a protein that forms structural filaments inside astroglial cells. Mutations in this gene cause these filaments to clump together abnormally within the cells. This accumulation disrupts the normal function of astroglial cells, which are responsible for supporting and nourishing neurons. The resulting cellular stress and dysfunction lead to the progressive damage of brain and spinal cord tissue characteristic of Alexander disease.
In the infantile form, which is the most common and severe type, early signs often appear in the first few months of life. These include rapid head growth (macrocephaly), a bulging fontanelle (soft spot), irritability, and feeding difficulties. As the condition progresses, infants may develop seizures, muscle stiffness (spasticity), and delays in reaching motor milestones such as sitting or walking.
The age of onset significantly impacts the clinical course. The infantile form typically presents with rapid neurological decline and a more severe prognosis, often requiring intensive supportive care for seizures and feeding issues. The juvenile and adult forms generally have a slower progression, with symptoms such as spasticity, ataxia, and speech difficulties developing over years. Treatment is currently supportive, focusing on managing symptoms like seizures with medication, physical therapy to maintain mobility, and speech therapy, as there is no cure to reverse the underlying genetic defect.
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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