solute carrier family 1 member 3
Última actualización 4 de mayo de 2023
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
The SLC1A3 gene provides instructions for making a protein called excitatory amino acid transporter 1 (EAAT1). The EAAT1 protein is primarily found in nervous system cells called glia (or glial cells), which protect and maintain nerve cells (neurons). While the protein is found in cells throughout the brain, it is most abundant in the part of the brain that is connected to the spinal cord (the brainstem) and the region of the brain involved in coordinating movements (the cerebellum).
Normal function
The SLC1A3 gene provides instructions for making a protein called excitatory amino acid transporter 1 (EAAT1). The EAAT1 protein is primarily found in nervous system cells called glia (or glial cells), which protect and maintain nerve cells (neurons). While the protein is found in cells throughout the brain, it is most abundant in the part of the brain that is connected to the spinal cord (the brainstem) and the region of the brain involved in coordinating movements (the cerebellum).
The EAAT1 protein transports a molecule called glutamate in the brain. Glutamate is one of several brain chemicals called neurotransmitters, which allow neurons to communicate with one another. EAAT1 also transports negatively charged chlorine atoms (chloride ions).
Neurotransmitters (such as glutamate) are released from neurons and relay signals to other cells by attaching to receptor proteins on neighboring neurons. After the neurotransmitters have had their effect, they detach from their receptors and must be cleared from the spaces between neurons. Researchers have determined that EAAT1 is one of several glutamate transporters that clear excess glutamate from these spaces. This process is carefully regulated to ensure that signals are transmitted accurately throughout the nervous system. The timely removal of glutamate is also necessary to prevent a buildup of this neurotransmitter between cells, which would be toxic to neurons.
The EAAT1 protein also transports chloride ions in and out of cells. This function of the protein may help regulate the size (volume) of glia by playing a role in their intake and release of water. EAAT1 may also help maintain a normal balance of charged molecules (ions) in cells.
Conditions referring to this gene or chromosome
Otros nombres
EA6
EAA1_HUMAN
EAAT-1
EAAT1
Excitatory amino acid transporter 1
FLJ25094
GLAST
GLAST1
Glial high affinity glutamate transporter
Glutamate/aspartate transporter, high affinity, sodium-dependent
Sodium-dependent glutamate/aspartate transporter 1
solute carrier family 1 (glial high affinity glutamate transporter), member 3
Solute carrier family 1 member 3
Related patient information and medicines
Patient information leaflet
enfermedad de Wilson
enfermedad de Wilson es un genetic disorder in which copper builds up in the body, mainly in the liver and brain. Without any treatment, the build-up of copper can cause serious symptoms. Treatment is with medication to remove the excess copper and/or to prevent a further build-up of copper. How is Wilson's disease inherited. Wilson's disease is an.
Patient information leaflet
Enfermedad renal poliquística
This means that one or more of your genes es faulty, which results in you making many cysts in the kidneys. There are different types of polycystic kidney disease: Autosomal dominant polycystic kidney disease (ADPKD) This is the most common type. This is an hereditary condition caused by a faulty gene which is inherited from one parent. Autosomal.
Patient information leaflet
Hemocromatosis
Haemochromatosis is an inherited (genetic) disorder cuál causes the body to absorb too much iron from the diet. This excess iron causes damage to organs in which it builds up. The main treat... Because of the risk of developing a serious complication such as cirrhosis, treatment to remove iron buildup from the body is very important even if there.
Patient information leaflet
Distrofia muscular de Duchenne
The weakness develops gradually. It usually starts to be seen in early childhood. Symptoms are mild at first but increase as the child becomes older. The name Duchenne comes from the doctor who first studied this condition. How common is Duchenne muscular dystrophy. About 1 in 3,500 boys in the UK are born with DMD. There are other types of.
Patient information leaflet
Esferocitosis hereditaria
Hereditary spherocytosis (HS) is an inherited condition of red blood cells. The disease can be mild and go unrecognised in some people. In others there may be severe anaemia requiring regular blood transfusions. Some people with hereditary spherocytosis may be offered surgery to remove their spleen. This usually helps the condition, but increases.
Patient information leaflet
Fibrosis quística
What causes cystic fibrosis. Fibrosis quística es a genetic disorder. A genetic disorder is one that can be passed on from your parents through your genes. How is cystic fibrosis inherited. Fibrosis quística is an autosomal recessive disorder. This means that in order to develop cystic fibrosis you need to inherit two cystic fibrosis genes, one from.
Lecturas adicionales y referencias
- solute carrier family 1 member 3; MedlinePlus, National Library of Medicine.
- Banner SJ, Fray AE, Ince PG, Steward M, Cookson MR, Shaw PJ. The expression of the glutamate re-uptake transporter excitatory amino acid transporter 1 (EAAT1) in the normal human CNS and in motor neurone disease: an immunohistochemical study. Neuroscience. 2002;109(1):27-44. doi: 10.1016/s0306-4522(01)00437-7.
- Beart PM, O'Shea RD. Transporters for L-glutamate: an update on their molecular pharmacology and pathological involvement. Br J Pharmacol. 2007 Jan;150(1):5-17. doi: 10.1038/sj.bjp.0706949. Epub 2006 Nov 6.
- Chen I, Wu Q, Font J, Ryan RM. The twisting elevator mechanism of glutamate transporters reveals the structural basis for the dual transport-channel functions. Curr Opin Struct Biol. 2022 Aug;75:102405. doi: 10.1016/j.sbi.2022.102405. Epub 2022 Jun 13.
- Colucci E, Anshari ZR, Patino-Ruiz MF, Nemchinova M, Whittaker J, Slotboom DJ, Guskov A. Mutation in glutamate transporter homologue GltTk provides insights into pathologic mechanism of episodic ataxia 6. Nat Commun. 2023 Mar 31;14(1):1799. doi: 10.1038/s41467-023-37503-y.
- Jen JC, Wan J, Palos TP, Howard BD, Baloh RW. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology. 2005 Aug 23;65(4):529-34. doi: 10.1212/01.wnl.0000172638.58172.5a.
- Kawakami H, Tanaka K, Nakayama T, Inoue K, Nakamura S. Cloning and expression of a human glutamate transporter. Biochem Biophys Res Commun. 1994 Feb 28;199(1):171-6. doi: 10.1006/bbrc.1994.1210.
- Kovermann P, Untiet V, Kolobkova Y, Engels M, Baader S, Schilling K, Fahlke C. Increased glutamate transporter-associated anion currents cause glial apoptosis in episodic ataxia 6. Brain Commun. 2020 Mar 4;2(1):fcaa022. doi: 10.1093/braincomms/fcaa022. eCollection 2020.
- Matsugami TR, Tanemura K, Mieda M, Nakatomi R, Yamada K, Kondo T, Ogawa M, Obata K, Watanabe M, Hashikawa T, Tanaka K. From the Cover: Indispensability of the glutamate transporters GLAST and GLT1 to brain development. Proc Natl Acad Sci U S A. 2006 Aug 8;103(32):12161-6. doi: 10.1073/pnas.0509144103. Epub 2006 Jul 31.
- Stoffel W, Sasse J, Duker M, Muller R, Hofmann K, Fink T, Lichter P. Human high affinity, Na(+)-dependent L-glutamate/L-aspartate transporter GLAST-1 (EAAT-1): gene structure and localization to chromosome 5p11-p12. FEBS Lett. 1996 May 20;386(2-3):189-93. doi: 10.1016/0014-5793(96)00424-3.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.