reelin
Senast uppdaterad 8 Nov 2023
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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. After being released, 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.
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. Reelin is released by certain brain cells. After being released, 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 referring to this gene or chromosome
Other names
LIS2
PRO1598
RELN_HUMAN
RL
Vidare läsning och referenser
- reelin; MedlinePlus, National Library of Medicine.
- 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. doi: 10.1002/ajmg.b.30392.
- Dazzo E, Fanciulli M, Serioli E, Minervini G, Pulitano P, Binelli S, Di Bonaventura C, Luisi C, Pasini E, Striano S, Striano P, Coppola G, Chiavegato A, Radovic S, Spadotto A, Uzzau S, La Neve A, Giallonardo AT, Mecarelli O, Tosatto SC, Ottman R, Michelucci R, Nobile C. Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. Am J Hum Genet. 2015 Jun 4;96(6):992-1000. doi: 10.1016/j.ajhg.2015.04.020.
- 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):549-553. doi: 10.1002/ajmg.b.31018.
- 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. doi: 10.1038/79246.
- 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.
- Ventruti A, Kazdoba TM, Niu S, D'Arcangelo G. Reelin deficiency causes specific defects in the molecular composition of the synapses in the adult brain. Neuroscience. 2011 Aug 25;189:32-42. doi: 10.1016/j.neuroscience.2011.05.050. Epub 2011 Jun 2.
- Wedenoja J, Tuulio-Henriksson A, Suvisaari J, Loukola A, Paunio T, Partonen T, Varilo T, Lonnqvist 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.
- 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. doi: 10.1002/ajmg.a.31667.
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8 Nov 2023 | Senaste versionen
1 nov 2023 | Ursprungligen publicerad
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