doublecortin
Ultimo aggiornamento 18 Ago 2020
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L DCX gene provides instructions for producing a protein called doublecortin. This protein is involved in the movement of nerve cells (neurons) to their proper locations in the developing brain, a process called neuronal migration. Doublecortin attaches (binds) to microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). The binding of doublecortin promotes the stability of microtubules. Microtubules help propel neurons by forming scaffolding within the cell that elongates in a specific direction, altering the cytoskeleton and moving the neuron.
Normal function
L DCX gene provides instructions for producing a protein called doublecortin. This protein is involved in the movement of nerve cells (neurons) to their proper locations in the developing brain, a process called neuronal migration. Doublecortin attaches (binds) to microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). The binding of doublecortin promotes the stability of microtubules. Microtubules help propel neurons by forming scaffolding within the cell that elongates in a specific direction, altering the cytoskeleton and moving the neuron.
Conditions referring to this gene or chromosome
Altri nomi
DBCN
DC
DCX_HUMAN
doublecortex
doublecortex; lissencephaly, X-linked (doublecortin)
lissencephalin-X
LISX
XLIS
Ulteriori letture e riferimenti
- doublecortin; MedlinePlus, National Library of Medicine.
- Bahi-Buisson N, Souville I, Fourniol FJ, Toussaint A, Moores CA, Houdusse A, Lemaitre JY, Poirier K, Khalaf-Nazzal R, Hully M, Leger PL, Elie C, Boddaert N, Beldjord C, Chelly J, Francis F; SBH-LIS European Consortium. New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum. Brain. 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323.
- Friocourt G, Marcorelles P, Saugier-Veber P, Quille ML, Marret S, Laquerriere A. Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly. Acta Neuropathol. 2011 Feb;121(2):149-70. doi: 10.1007/s00401-010-0768-9. Epub 2010 Nov 3.
- Fry AE, Cushion TD, Pilz DT. The genetics of lissencephaly. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):198-210. doi: 10.1002/ajmg.c.31402. Epub 2014 May 23.
- Gonzalez-Moron D, Vishnopolska S, Consalvo D, Medina N, Marti M, Cordoba M, Vazquez-Dusefante C, Claverie S, Rodriguez-Quiroga SA, Vega P, Silva W, Kochen S, Kauffman MA. Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders. PLoS One. 2017 Sep 27;12(9):e0185103. doi: 10.1371/journal.pone.0185103. eCollection 2017.
- Liu JS. Molecular genetics of neuronal migration disorders. Curr Neurol Neurosci Rep. 2011 Apr;11(2):171-8. doi: 10.1007/s11910-010-0176-5.
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