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Genetics Home Reference: your guide to understanding genetic conditions
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RELN

Reviewed August 2013

What is the official name of the RELN gene?

The official name of this gene is “reelin.”

RELN is the gene's official symbol. The RELN gene is also known by other names, listed below.

What is the normal function of the RELN gene?

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).

How are changes in the RELN gene related to health conditions?

lissencephaly with cerebellar hypoplasia - caused by mutations in the RELN gene

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 - increased risk from variations of the RELN gene

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.

Where is the RELN gene located?

Cytogenetic Location: 7q22

Molecular Location on chromosome 7: base pairs 103,471,783 to 103,989,515

The RELN gene is located on the long (q) arm of chromosome 7 at position 22.

The RELN gene is located on the long (q) arm of chromosome 7 at position 22.

More precisely, the RELN gene is located from base pair 103,471,783 to base pair 103,989,515 on chromosome 7.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about RELN?

You and your healthcare professional may find the following resources about RELN helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the RELN gene or gene products?

  • LIS2
  • PRO1598
  • RELN_HUMAN
  • RL

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding RELN?

autism ; axons ; disability ; gene ; hypoplasia ; nervous system ; neuronal migration ; neurotransmitters ; plasticity ; protein ; receptor ; schizophrenia ; spectrum

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References

  • Chang BS, Duzcan F, Kim S, Cinbis M, Aggarwal A, Apse KA, Ozdel O, Atmaca M, Zencir S, Bagci H, Walsh CA. The role of RELN in lissencephaly and neuropsychiatric disease. Am J Med Genet B Neuropsychiatr Genet. 2007 Jan 5;144B(1):58-63. (http://www.ncbi.nlm.nih.gov/pubmed/16958033?dopt=Abstract)
  • Goes FS, Willour VL, Zandi PP, Belmonte PL, MacKinnon DF, Mondimore FM, Schweizer B; National Institute of Mental Health Genetics Initiative Bipolar Disorder Consortium, DePaulo JR Jr, Gershon ES, McMahon FJ, Potash JB. Sex-specific association of the Reelin gene with bipolar disorder. Am J Med Genet B Neuropsychiatr Genet. 2010 Mar 5;153B(2):549-53. doi: 10.1002/ajmg.b.31018. (http://www.ncbi.nlm.nih.gov/pubmed/19691043?dopt=Abstract)
  • Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet. 2000 Sep;26(1):93-6. Erratum in: Nat Genet 2001 Feb;27(2):225. (http://www.ncbi.nlm.nih.gov/pubmed/10973257?dopt=Abstract)
  • Lakatosova S, Ostatnikova D. Reelin and its complex involvement in brain development and function. Int J Biochem Cell Biol. 2012 Sep;44(9):1501-4. doi: 10.1016/j.biocel.2012.06.002. Epub 2012 Jun 15. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22705982?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5649)
  • OMIM: REELIN (http://omim.org/entry/600514)
  • Wedenoja J, Tuulio-Henriksson A, Suvisaari J, Loukola A, Paunio T, Partonen T, Varilo T, Lönnqvist J, Peltonen L. Replication of association between working memory and Reelin, a potential modifier gene in schizophrenia. Biol Psychiatry. 2010 May 15;67(10):983-91. doi: 10.1016/j.biopsych.2009.09.026. Epub 2009 Nov 17. (http://www.ncbi.nlm.nih.gov/pubmed/19922905?dopt=Abstract)
  • Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME, Dobyns WB, Gleeson JG. Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. Am J Med Genet A. 2007 May 1;143A(9):939-44. (http://www.ncbi.nlm.nih.gov/pubmed/17431900?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2013
Published: July 27, 2015