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CHRNE

CHRNE

Reviewed November 2011

What is the official name of the CHRNE gene?

The official name of this gene is “cholinergic receptor, nicotinic, epsilon (muscle).”

CHRNE is the gene's official symbol. The CHRNE gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the CHRNE gene?

The CHRNE gene provides instructions for making the epsilon (ε) component (subunit) of the acetylcholine receptor (AChR) protein. The AChR protein is found in the membrane of skeletal muscle cells and plays a critical role in the neuromuscular junction, which is the area where signaling between nerve and muscle cells occurs. Signaling between nerve and muscle cells is necessary for movement. The AChR protein consists of five subunits, each of which is produced from a different gene. The subunits are assembled into the AChR protein in the endoplasmic reticulum, a cell structure involved in protein processing and transport, before being transported to the cell membrane. 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 (found only in fetal AChR) to form adult AChR protein.

How are changes in the CHRNE gene related to health conditions?

congenital myasthenic syndrome - caused by mutations in the CHRNE gene

More than 90 mutations in the CHRNE gene have been found to cause congenital myasthenic syndrome. Most of these mutations replace one DNA building block (nucleotide) in the gene, but other mutations add or delete small sections of DNA. These mutations can lead to the production of an altered ε subunit. A change in the ε subunit leads to an increase in AChR protein signaling or a decrease in AChR protein signaling, which impairs cell-to-cell communication at the neuromuscular junction. Decreased signaling can lead to a decrease in muscle movement and cause weakness, while an increase in signaling can damage muscle cells and cause weakness. Problems with communication between nerve and muscle cells can lead to the signs and symptoms of congenital myasthenic syndrome, including muscle weakness and delayed development of motor skills such as crawling and walking. Some people with CHRNE mutations seem to have a milder course of the disease compared with other affected individuals, likely because the fetal γ subunit (active at low levels after birth) can partially compensate for the lack of ε subunit in the adult AChR protein.

Where is the CHRNE gene located?

Cytogenetic Location: 17p13.2

Molecular Location on chromosome 17: base pairs 4,897,768 to 4,903,073

The CHRNE gene is located on the short (p) arm of chromosome 17 at position 13.2.

The CHRNE gene is located on the short (p) arm of chromosome 17 at position 13.2.

More precisely, the CHRNE gene is located from base pair 4,897,768 to base pair 4,903,073 on chromosome 17.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about CHRNE?

You and your healthcare professional may find the following resources about CHRNE helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CHRNE gene or gene products?

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding CHRNE?

acetylcholine ; cell ; cell membrane ; congenital ; DNA ; endoplasmic reticulum ; gene ; motor ; muscle cells ; neuromuscular junction ; nucleotide ; protein ; receptor ; skeletal muscle ; subunit ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (5 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: November 2011
Published: August 25, 2014