ARFGEF2
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Gene summaries condense public reference material; disease links and population data change as databases are updated. Clinical decisions belong with your care team.
ARF guanine nucleotide exchange factor 2
Normal Function
Health Conditions Related to Genetic Changes
Periventricular heterotopia
A few mutations in the ARFGEF2 gene have been identified in individuals with periventricular heterotopia. These mutations may interfere with vesicle trafficking, which is important in controlling cell migration during the development of the brain. Nerve cells (neurons) that do not migrate properly during development form clumps around fluid-filled cavities (ventricles) near the center of the brain, resulting in the signs and symptoms of periventricular heterotopia.
Mutations in the ARFGEF2 gene may also result in weakening of the attachments (adhesion) between cells that form the lining of the ventricles, by impairing the trafficking of the molecules needed for this adhesion. A weakened ventricular lining could allow some neurons to form clumps around the ventricles while others migrate normally to the exterior of the brain, as seen in periventricular heterotopia.
More About This Health ConditionRelated Conditions
Periventricular heterotopia
Health Conditions Related to Genetic Changes
A few mutations in the ARFGEF2 gene have been identified in individuals with periventricular heterotopia. These mutations may interfere with vesicle trafficking, which is important in controlling cell migration during the development of the brain. Nerve cells (neurons) that do not migrate properly during development form clumps around fluid-filled cavities (ventricles) near the center of the brain, resulting in the signs and symptoms of periventricular heterotopia.
Mutations in the ARFGEF2 gene may also result in weakening of the attachments (adhesion) between cells that form the lining of the ventricles, by impairing the trafficking of the molecules needed for this adhesion. A weakened ventricular lining could allow some neurons to form clumps around the ventricles while others migrate normally to the exterior of the brain, as seen in periventricular heterotopia.