gamma-aminobutyric acid type A receptor subunit alpha1
Última actualización 5 de jul de 2022
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El GABRA1 gene provides instructions for making one piece, the alpha-1 (α1) subunit, of the GABAA receptor protein. GABAA receptors are made up of different combinations of five protein subunits, each produced from a different gene. (Nineteen different genes provide instructions for GABAA receptor subunits.) These subunits form a hole (pore) in the cell membrane through which negatively charged chlorine atoms (chloride ions) can flow.
Normal function
El GABRA1 gene provides instructions for making one piece, the alpha-1 (α1) subunit, of the GABAA receptor protein. GABAA receptors are made up of different combinations of five protein subunits, each produced from a different gene. (Nineteen different genes provide instructions for GABAA receptor subunits.) These subunits form a hole (pore) in the cell membrane through which negatively charged chlorine atoms (chloride ions) can flow.
A chemical that transmits signals in the brain (a neurotransmitter) called gamma-amino butyric acid (GABA) attaches to GABAA receptors. Once GABA attaches, the pore formed by the subunits opens, and chloride ions flow across the cell membrane. After infancy, chloride ions flow into the cell through the open pore, which creates an environment in the cell that blocks (inhibits) signaling between neurons. The primary role of GABA in children and adults is to prevent the brain from being overloaded with too many signals. In contrast, in newborns and infants, chloride ions flow out of the cell when the pore is opened, creating an environment that allows signaling between neurons.
Conditions referring to this gene or chromosome
Otros nombres
ECA4
EJM
EJM5
GABA(A) receptor subunit alpha-1
GABA(A) receptor, alpha 1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
gamma-aminobutyric acid receptor subunit alpha-1
gamma-aminobutyric acid receptor subunit alpha-1 precursor
GBRA1_HUMAN
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Lecturas adicionales y referencias
- gamma-aminobutyric acid type A receptor subunit alpha1; MedlinePlus, National Library of Medicine.
- Ben-Ari Y, Khalilov I, Kahle KT, Cherubini E. The GABA excitatory/inhibitory shift in brain maturation and neurological disorders. Neuroscientist. 2012 Oct;18(5):467-86. doi: 10.1177/1073858412438697. Epub 2012 Apr 30.
- Bradley CA, Taghibiglou C, Collingridge GL, Wang YT. Mechanisms involved in the reduction of GABAA receptor alpha1-subunit expression caused by the epilepsy mutation A322D in the trafficking-competent receptor. J Biol Chem. 2008 Aug 8;283(32):22043-50. doi: 10.1074/jbc.M801708200. Epub 2008 Jun 5.
- Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM, Carmant L, Verner A, Lu WY, Wang YT, Rouleau GA. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet. 2002 Jun;31(2):184-9. doi: 10.1038/ng885. Epub 2002 May 6.
- Ding L, Feng HJ, Macdonald RL, Botzolakis EJ, Hu N, Gallagher MJ. GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors. J Biol Chem. 2010 Aug 20;285(34):26390-405. doi: 10.1074/jbc.M110.142299. Epub 2010 Jun 15.
- Gallagher MJ, Ding L, Maheshwari A, Macdonald RL. The GABAA receptor alpha1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation. Proc Natl Acad Sci U S A. 2007 Aug 7;104(32):12999-3004. doi: 10.1073/pnas.0700163104. Epub 2007 Aug 1.
- Kang JQ, Shen W, Macdonald RL. Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X. J Neurosci. 2009 Mar 4;29(9):2833-44. doi: 10.1523/JNEUROSCI.4512-08.2009.
- Krampfl K, Maljevic S, Cossette P, Ziegler E, Rouleau GA, Lerche H, Bufler J. Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy. Eur J Neurosci. 2005 Jul;22(1):10-20. doi: 10.1111/j.1460-9568.2005.04168.x.
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