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COLQ gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

COLQ gene

The COLQ gene provides instructions for making a protein essential for neuromuscular junction function, and variants in this gene are linked to congenital myasthenic syndromes.

Overview

The COLQ gene provides instructions for making a protein called acetylcholinesterase collagenic tail peptide. This protein plays an important role in the neuromuscular junction, which is the area between nerve cells and muscle cells where signals are passed on to trigger muscle movement.

The acetylcholinesterase collagenic tail peptide anchors another protein called acetylcholinesterase to the muscle cell at the neuromuscular junction. The acetylcholinesterase collagenic tail peptide is made up of three identical parts (subunits). Each subunit attaches (binds) to a bundle of four acetylcholinesterase proteins. Acetylcholinesterase plays a role in regulating the signaling between nerve cells and muscle cells by breaking down the signaling protein acetylcholine.

Health Conditions Related to Genetic Changes

Congenital myasthenic syndromes

Many variants (also called mutations) in the COLQ gene have been found to cause congenital myasthenic syndromes. These are a group of conditions 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 COLQ gene variants that cause congenital myasthenic syndromes lead to the substitution of one protein building block (amino acid) for another in the acetylcholinesterase collagenic tail peptide or cause cells to produce a shortened, nonfunctional version of the protein. The abnormal protein cannot effectively anchor acetylcholinesterase in the neuromuscular junction, reducing the amount of acetylcholinesterase in this region. As a result, acetylcholine is not regularly broken down and the signaling between nerve and muscle cells is prolonged. This signaling overload can damage muscle cells, leading to the muscle weakness that is characteristic of congenital myasthenic syndromes.

Other Names for This Gene

  • acetylcholinesterase collagenic tail peptide
  • acetylcholinesterase-associated collagen
  • AChE Q subunit
  • collagenic tail of endplate acetylcholinesterase
  • COLQ_HUMAN

Frequently Asked Questions

Diagnosis usually involves a combination of clinical evaluation, electrophysiological studies like repetitive nerve stimulation to show muscle fatigue, and genetic testing to identify specific mutations in the COLQ gene. Sometimes a muscle biopsy may also be performed.
COLQ-related CMS is typically inherited in an autosomal recessive pattern. This means both parents are usually carriers of one copy of the mutated gene but do not show symptoms. Each child of carrier parents has a 25% chance of inheriting two copies of the mutated gene and developing the condition, a 50% chance of being a carrier, and a 25% chance of inheriting two normal copies. Genetic counseling can help families understand these risks.
Treatment often involves medications such as acetylcholinesterase inhibitors to improve nerve-muscle signaling, or drugs like salbutamol (albuterol) which can improve muscle strength in some patients. Supportive care, including respiratory support and physical therapy, is also crucial to manage symptoms and improve quality of life.
Parents might notice muscle weakness, especially in the face, neck, and limbs, leading to feeding difficulties, a weak cry, drooping eyelids (ptosis), or breathing problems. These symptoms often appear shortly after birth or in early childhood and can worsen with activity.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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