RELN | SelfDecode | Genome Analysis

Summary of RELN

The RELN gene encodes a protein called reelin. It triggers neurons to migrate to their proper locations and help regulate brain plasticity. Mutations of this gene are associated with higher risk for schizophrenia and bipolar disorder (R).

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The Function of RELN

Extracellular matrix serine protease that plays a role in layering of neurons in the cerebral cortex and cerebellum. Regulates microtubule function in neurons and neuronal migration. Affects migration of sympathetic preganglionic neurons in the spinal cord, where it seems to act as a barrier to neuronal migration. Enzymatic activity is important for the modulation of cell adhesion. Binding to the extracellular domains of lipoprotein receptors VLDLR and LRP8/APOER2 induces tyrosine phosphorylation of DAB1 and modulation of TAU phosphorylation.

Protein names

Recommended name:

Reelin

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Top Gene-Substance Interactions

RELN Interacts with These Diseases

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Substances That Increase RELN

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Substances That Decrease RELN

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Advanced Summary

lissencephaly with cerebellar hypoplasia At least six mutations in the RELN gene have been found to cause lissencephaly with cerebellar hypoplasia (LCH). This condition affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the brain region involved in coordinating movements is unusually small and underdeveloped (cerebellar hypoplasia). The RELN gene mutations that cause LCH lead to a complete lack of reelin. As a result, the signaling pathway that triggers neuronal migration is not activated. Without reelin, neurons are disorganized, the normal folds and grooves of the brain do not form, and brain structures do not develop properly. This impairment of brain development leads to intellectual disability, delayed overall development, movement problems, and other signs and symptoms of LCH. other disorders Studies have shown certain variations (polymorphisms) in the RELN gene to be associated with an increased risk of psychiatric disorders such as schizophrenia and bipolar disease. Women with these polymorphisms are at particular risk of developing bipolar disease. In addition, certain genetic changes that result in a decrease in production of reelin (but not a complete absence) may be a risk factor for autism spectrum disorders, which affect communication and social interaction. However, other studies have not supported these findings. Many genetic and environmental factors are believed to contribute to these complex conditions.

The RELN gene provides instructions for making a protein called reelin. This protein is produced in the brain both before and after birth. Reelin is released by certain brain cells; then it attaches (binds) to specific receptor proteins. In the developing brain, this binding turns on (activates) a signaling pathway that triggers nerve cells (neurons) to migrate to their proper locations. After birth, reelin likely plays a role in many brain processes, including the extension of axons and dendrites, which are specialized outgrowths from nerve cells that are essential for the transmission of nerve impulses. Reelin may also regulate synaptic plasticity, which is the ability of connections between neurons (synapses) to change and adapt over time in response to experience. Additionally, reelin controls the release of chemicals that relay signals in the nervous system (neurotransmitters).

Conditions with Increased Gene Activity

Experimental Variables:

Condition	Change (log₂fold)	Comparison	Species	Experimental variables	Experiment name

Conditions with Decreased Gene Activity

Experimental Variables:

Condition	Change (log₂fold)	Comparison	Species	Experimental variables	Experiment name

Technical

The following transcription factors affect gene expression:

Tissue specificity:

Abundantly produced during brain ontogenesis by the Cajal-Retzius cells and other pioneer neurons located in the telencephalic marginal zone and by granule cells of the external granular layer of the cerebellum. In adult brain, preferentially expressed in GABAergic interneurons of prefrontal cortices, temporal cortex, hippocampus and glutamatergic granule cells of cerebellum. Expression is reduced to about 50% in patients with schizophrenia. Also expressed in fetal and adult liver.

Developmental stage:

Expressed in fetal and postnatal brain and liver. Expression in postnatal human brain is high in the cerebellum.

Molecular Function:

Biological Processes:

*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| ETL7| extracellular matrix serine protease| LIS2| M959_02712| N303_09094| N308_03037| N320_05112| N321_06913| N330_06012| N331_03659| N333_10596| N335_01648| N339_05728| N340_12919| PAL_GLEAN10013473| PRO1598| Reelen| reeler| reelin, extracellular| Rl| TREES_T100006176| Y1Q_008503| Z169_02700| reln

RELN (Reelin)

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