This gene encodes the subunit of a collagen-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. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Function:
Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina.
Subcellular Location:
Cell junction; synapse.
Tissue Specificity:
Found at the end plate of skeletal muscle.
Post-translational modifications:
The triple-helical tail is stabilized by disulfide bonds at each end.
DISEASE:
Defects in COLQ are the cause of congenital myasthenic syndrome Engel type (CMSE) [MIM:603034]; also known as end-plate acetylcholinesterase deficiency or congenital myasthenic syndrome type IC (CMS-IC). CMSE is a rare autosomal recessive congenital myasthenic syndrome characterized by onset during childhood, generalized weakness, abnormal fatigability on exertion, refrectoriness to acetylcholinesterase drugs, decremental electromyographic response and morphological abnormalities of the neuromuscular junctions.
Similarity:
Belongs to the COLQ family.
Contains 2 collagen-like domains.
SWISS:
Q9Y215
Gene ID:
8292
Database links:
Entrez Gene: 8292 Human
Omim: 603033 Human
SwissProt: Q9Y215 Human
Unigene: 146735 Human
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