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Genetics Home Reference: your guide to understanding genetic conditions
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COLQ

Reviewed November 2011

What is the official name of the COLQ gene?

The official name of this gene is “collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase.”

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

What is the normal function of the COLQ gene?

The COLQ gene provides instructions for making a protein that plays an important role in the neuromuscular junction. The neuromuscular junction is the area between the ends of nerve cells and muscle cells where signals are relayed to trigger muscle movement.

The ColQ protein anchors another protein called acetylcholinesterase to the muscle cell membrane at the neuromuscular junction. The ColQ protein 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 length of signaling between nerve cells and muscle cells by breaking down the signaling protein acetylcholine.

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

congenital myasthenic syndrome - caused by mutations in the COLQ gene

More than 35 mutations in the COLQ gene have been found to cause congenital myasthenic syndrome. Most of these mutations change single protein building blocks (amino acids) in the ColQ protein or lead to the production of a shortened, nonfunctional protein. A lack of functional ColQ protein leads to a reduction in the amount of acetylcholinesterase that is available in the neuromuscular junction. As a result, acetylcholine is not broken down so signaling between nerve and muscle cells is prolonged. This signaling overload can damage muscle cells, leading to the muscle weakness characteristic of congenital myasthenic syndrome.

Where is the COLQ gene located?

Cytogenetic Location: 3p25

Molecular Location on chromosome 3: base pairs 15,450,132 to 15,521,750

The COLQ gene is located on the short (p) arm of chromosome 3 at position 25.

The COLQ gene is located on the short (p) arm of chromosome 3 at position 25.

More precisely, the COLQ gene is located from base pair 15,450,132 to base pair 15,521,750 on chromosome 3.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about COLQ?

You and your healthcare professional may find the following resources about COLQ 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 COLQ gene or gene products?

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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding COLQ?

acetylcholine ; acids ; cell ; cell membrane ; collagen ; congenital ; deficiency ; gene ; muscle cell ; muscle cells ; neuromuscular junction ; peptide ; protein ; subunit ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Barišić N, Chaouch A, Müller JS, Lochmüller H. Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes. Eur J Paediatr Neurol. 2011 May;15(3):189-96. doi: 10.1016/j.ejpn.2011.03.006. Epub 2011 Apr 17. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21498094?dopt=Abstract)
  • OMIM: COLLAGENIC TAIL OF ENDPLATE ACETYLCHOLINESTERASE (http://omim.org/entry/603033)
  • Engel AG, Shen XM, Selcen D, Sine SM. What have we learned from the congenital myasthenic syndromes. J Mol Neurosci. 2010 Jan;40(1-2):143-53. doi: 10.1007/s12031-009-9229-0. Epub 2009 Aug 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19688192?dopt=Abstract)
  • Engel AG. Congenital myasthenic syndromes in 2012. Curr Neurol Neurosci Rep. 2012 Feb;12(1):92-101. doi: 10.1007/s11910-011-0234-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21997714?dopt=Abstract)
  • Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA. Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol. 2008 Sep 15;201-202:6-12. doi: 10.1016/j.jneuroim.2008.06.026. Epub 2008 Aug 15. (http://www.ncbi.nlm.nih.gov/pubmed/18707767?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8292)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2011
Published: September 22, 2014