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URL of this page: https://medlineplus.gov/genetics/gene/chrne/

CHRNE gene

cholinergic receptor nicotinic epsilon subunit

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.

Health Conditions Related to Genetic Changes

Congenital myasthenic syndromes

Many variants (also called mutations) in the CHRNE gene have been found to cause congenital myasthenic syndromes. These are a group of conditions that are characterized by weak muscles that tire easily (myasthenia). The myasthenia in people with these conditions typically begins shortly after birth or during early childhood.

Most of the CHRNE gene variants that cause congenital myasthenic syndromes replace one DNA building block (nucleotide) with another in the gene. These CHRNE gene variants cause cells to produce an altered version of the ε subunit. A change in the ε subunit can increase or decrease AChR protein signaling. Either of these signaling changes can decrease muscle movement and lead to the muscle weakness seen in people with congenital myasthenic syndromes.

Other CHRNE gene variants add or delete small sections of DNA in the gene. As a result, the number of ε subunits available for use in the AChR protein at the neuromuscular junction is reduced, causing the signs and symptoms of congenital myasthenic syndromes.

Some people with CHRNE gene variants seem to have a milder course of the disease compared with other affected individuals. Researchers suspect this is because the fetal γ subunit (which is active at low levels after birth) can partially compensate for the lack of ε subunit in the adult AChR protein.

More About This Health Condition

Other Names for This Gene

  • acetylcholine receptor subunit epsilon
  • ACHE_HUMAN
  • AchR epsilon subunit
  • ACHRE
  • cholinergic receptor, nicotinic epsilon

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Abicht A, Muller JS, Lochmuller H. Congenital Myasthenic Syndromes Overview. 2003 May 9 [updated 2021 Dec 23]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, 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/ Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed

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