Acetylcholinesterase collagenic tail peptide also known as AChE Q subunit, acetylcholinesterase-associated collagen, or ColQ is the collagen-tail subunit of
acetylcholinesterase found in the
neuromuscular junction
A neuromuscular junction (or myoneural junction) is a chemical synapse between a motor neuron and a muscle fiber.
It allows the motor neuron to transmit a signal to the muscle fiber, causing muscle contraction.
Muscles require innervation to ...
. In humans it is encoded by the ''COLQ''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
This gene encodes the subunit of a
collagen
Collagen () is the main structural protein in the extracellular matrix of the connective tissues of many animals. It is the most abundant protein in mammals, making up 25% to 35% of protein content. Amino acids are bound together to form a trip ...
-like molecule associated with
acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a
proline-rich attachment domain (PRAD) that binds an acetylcholinesterase
tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Multiple
transcript variants encoding different
isoforms have been found for this gene.
Clinical significance
Mutations in this gene are associated with endplate acetylcholinesterase deficiency
and one of the causes of the neuromuscular disease,
congenital myasthenia gravis.
References
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