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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.
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.
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.
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.
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.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acetylcholine ; acids ; cell ; cell membrane ; collagen ; congenital ; deficiency ; gene ; 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).
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.