cholinergic receptor nicotinic epsilon subunit
Ultimo aggiornamento 13 Feb 2026
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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
Altri nomi
acetylcholine receptor subunit epsilon
ACHE_HUMAN
AchR epsilon subunit
ACHRE
cholinergic receptor, nicotinic epsilon
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Ulteriori letture e riferimenti
- 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.
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