cholinergic receptor nicotinic epsilon subunit
Última actualización 13 Feb 2026
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
The CHRNE gene provides instructions for making the epsilon (ε) component (subunit) of the acetylcholine receptor (AChR) protein. The AChR protein consists of five subunits, each of which is produced from a different gene.
Normal function
The CHRNE gene provides instructions for making the epsilon (ε) component (subunit) of the acetylcholine receptor (AChR) protein. The AChR protein consists of five subunits, each of which is produced from a different gene.
The AChR protein is found on the surface of skeletal muscle cells, which are used to move the body. The AChR protein plays a critical role in the neuromuscular junction, which is the area between nerve and muscle cells where cell signaling occurs. Signaling between nerve and muscle cells is necessary for movement.
The AChR protein subunits assemble into the protein in the endoplasmic reticulum, a cell structure involved in protein processing and transport. The AChR protein is then transported to the cell surface. There are two major forms of the AChR protein: a fetal type that is present before birth and an adult type. The ε subunit is found only in the adult AChR protein. At about the 33rd week of pregnancy, the ε subunit replaces the gamma (γ) subunit (which is found only in the fetal type of AChR) to form the adult AChR protein.
Conditions referring to this gene or chromosome
Otros nombres
acetylcholine receptor subunit epsilon
ACHE_HUMAN
AchR epsilon subunit
ACHRE
cholinergic receptor, nicotinic epsilon
Related patient information and medicines
Patient information leaflet
Mastocitosis y trastornos de las células cebadas
Digestive symptoms H 2 -receptor antagonists or ... Oral sodium cromoglicate is beneficial in people with diarrhoea and tummy (abdominal) pain. Anticholinergic medication such as propantheline (which blocks the effects of a body chemical called acetylcholine) may help control diarrhoea. Other treatments Medicines called leukotriene inhibitors used.
Patient information leaflet
¿Puedo tomar Chaga y Cordyceps juntos?
Caffeine Cordyceps may have mild stimulant properties and can interact with adenosine receptors. Combining eso with caffeine (coffee, tea, energy drinks) may increase heart rate, jitteriness, or palpitations in sensitive individuals. Using other medicamentos Taking multiple medicines. Nuestro Verificador de Interacciones de Medicamentos helps you check whether your.
Patient information leaflet
¿Puedo tomar Piridostigmina y Ramipril juntos?
It can cause serious harm to an unborn baby, particularly affecting their kidney development... Use effective contraception while taking this medicine. Cholinergic Crisis (Overdose) - pyridostigmine If you experience severe muscle weakness, abdominal cramps, or difficulty breathing, seek urgent medical help. These can be signs of an overdose,.
Patient information leaflet
Medicamento para las náuseas
Various medicamentos are available to treat nausea. They work in different ways to one another. They are thought to work w... Hyoscine - this medicine works by blocking a chemical in the brain called acetylcholine. It is a type of medicine called an antimuscarinic (o anticholinergic). It works well for nausea caused by ear problems and motion.
Patient information leaflet
¿Puedo tomar Omeprazol y Piridostigmina juntos?
Important precautions Asthma or COPD Pyridostigmine can cause narrowing of the airways and increase mucus production, which may severely worsen breathing problems or trigger an asthma attack. Cholinergic Crisis (Overdose) - pyridostigmine If you experience severe muscle weakness, abdominal cramps, or difficulty breathing, seek urgent medical help..
Patient information leaflet
Broncodilatadores orales
Broncodilatadores orales help to relieve symptoms such as coughing, wheezing and shortness of breath, by opening up the air passages in the lungs so that air can flow into the lungs more freely. What is a bronchodilator. Bronchodilators son medicamentos that are used to treat breathing problems in people with lung diseases como asma and chronic.
Lecturas adicionales y referencias
- cholinergic receptor nicotinic epsilon subunit; MedlinePlus, National Library of Medicine.
- Abicht A, Muller JS, Lochmuller H. Congenital Myasthenic Syndromes Overview. 2003 May 9 [updated 2021 Dec 23]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1168/
- Della Marina A, Koutsoulidou A, Natera-de Benito D, Tykocinski LO, Tomazou M, Georgiou K, Laner A, Kolbel H, Nascimento A, Ortez C, Abicht A, Thakur BK, Lochmuller H, Phylactou LA, Ruck T, Schara-Schmidt U, Kale D, Hentschel A, Roos A. Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome. Acta Neuropathol Commun. 2025 Feb 13;13(1):29. doi: 10.1186/s40478-025-01946-9.
- Huang K, Luo YB, Bi FF, Yang H. Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports. Curr Neuropharmacol. 2021;19(5):718-729. doi: 10.2174/1570159X18666200729092332.
- Ohno K, Ito M, Ohkawara B. Review of 40 genes causing congenital myasthenic syndromes. J Hum Genet. 2025 Jun 18. doi: 10.1038/s10038-025-01355-9. Online ahead of print.
- Spendiff S, Lochmuller H, Maselli RA. Congenital myasthenic syndromes. Int Rev Neurobiol. 2025;182:253-274. doi: 10.1016/bs.irn.2025.04.025. Epub 2025 May 16.
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.