COLQ gene

collagen like tail subunit of asymmetric acetylcholinesterase

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: 3p25.1, which is the short (p) arm of chromosome 3 at position 25.1

Molecular Location: base pairs 15,450,133 to 15,521,751 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p25.1, which is the short (p) arm of chromosome 3 at position 25.1
  • acetylcholinesterase-associated collagen
  • acetylcholinesterase collagenic tail peptide
  • AChE Q subunit
  • collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
  • collagenic tail of endplate acetylcholinesterase
  • COLQ_HUMAN