RELN gene
The RELN gene provides instructions for making the reelin protein, which is essential for proper brain development and the regulation of nerve cell communication.
Normal Function
The RELN gene provides instructions for making a protein called reelin. This protein is produced in the brain both before and after birth and is released by certain brain cells. After being released, it attaches (binds) to specific receptor proteins. In the developing brain, this binding activates a signaling pathway that triggers nerve cells (neurons) to migrate to their proper locations.
After birth, reelin plays a role in several brain processes, including the extension of axons and dendrites, which are specialized outgrowths from nerve cells essential for transmitting nerve impulses. Reelin may also regulate synaptic plasticity, the ability of connections between neurons (synapses) to adapt over time in response to experience. Additionally, reelin controls the release of neurotransmitters, the chemicals that relay signals in the nervous system.
Health Conditions Related to Genetic Changes
Autosomal dominant epilepsy with auditory features
Variants in the RELN gene can cause autosomal dominant epilepsy with auditory features (ADEAF). People with this rare form of epilepsy typically hear sounds, such as buzzing or humming, during seizures. These variants reduce the amount of reelin in the body, which research suggests impairs the formation or function of synapses, leading to abnormal communication between neurons and seizure activity.
Lissencephaly with cerebellar hypoplasia
Several variants in the RELN gene cause lissencephaly with cerebellar hypoplasia (LCH). This condition affects brain development, resulting in a smooth brain appearance (lissencephaly) rather than the normal folds and grooves. Additionally, the cerebellum—the region involved in coordinating movements—is unusually small and underdeveloped (cerebellar hypoplasia). These variants lead to a complete lack of reelin, preventing the signaling pathway that triggers neuronal migration from activating. This results in disorganized neurons and improper brain structure development, leading to intellectual disabilities, developmental delays, and movement problems.
Autism spectrum disorder
Certain genetic changes that reduce but do not eliminate reelin production may increase the risk of autism spectrum disorder, a condition affecting communication and social interaction. However, findings are inconsistent across studies, and many genetic and environmental factors are believed to contribute to this complex condition.
Myoclonus-dystonia
MedlinePlus Genetics provides information about Myoclonus-dystonia.
Other disorders
Studies have shown that certain variations (polymorphisms) in the RELN gene are associated with an increased risk of psychiatric disorders, such as schizophrenia and bipolar disorder. Women with these polymorphisms are at particular risk of developing bipolar disorder. As with other conditions, many genetic and environmental factors likely contribute to these complex disorders.
Other Names for This Gene
- LIS2
- PRO1598
- RELN_HUMAN
- RL