Gene: COLQ

Alternate names for this Gene: CMS5|EAD

Gene Summary: 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.1

Description of this Gene: collagen like tail subunit of asymmetric acetylcholinesterase

Type of Gene: protein-coding

rs13100619 in COLQ gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs7609897 in COLQ gene and Diverticular Diseases PMID 30177863 2018 Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease.

PMID 28585551 2017 In the combined Icelandic and Danish data sets we observe significant association of intronic variants in ARHGAP15 (Rho GTPase-activating protein 15; rs4662344-T: P=1.9 × 10<sup>-18</sup>, odds ratio (OR)=1.23) and COLQ (collagen-like tail subunit of asymmetric acetylcholinesterase; rs7609897-T: P=1.5 × 10<sup>-10</sup>, OR=0.87) with diverticular disease and in FAM155A (family with sequence similarity 155A; rs67153654-A: P=3.0 × 10<sup>-11</sup>, OR=0.82) with diverticulitis.

rs7609897 in COLQ gene and Diverticulitis PMID 28585551 2017 In the combined Icelandic and Danish data sets we observe significant association of intronic variants in ARHGAP15 (Rho GTPase-activating protein 15; rs4662344-T: P=1.9 × 10<sup>-18</sup>, odds ratio (OR)=1.23) and COLQ (collagen-like tail subunit of asymmetric acetylcholinesterase; rs7609897-T: P=1.5 × 10<sup>-10</sup>, OR=0.87) with diverticular disease and in FAM155A (family with sequence similarity 155A; rs67153654-A: P=3.0 × 10<sup>-11</sup>, OR=0.82) with diverticulitis.

rs1025361623 in COLQ gene and ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) PMID 10665486 2000 The spectrum of mutations causing end-plate acetylcholinesterase deficiency.

PMID 11865139 2002 Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.

PMID 9758617 1998 Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).

PMID 24938146 2014 Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.

PMID 25557462 2015 Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.

PMID 14702351 2004 C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse.

PMID 21952943 2011 Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.

PMID 22088788 2012 Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.

PMID 18180250 2008 Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.

PMID 15248101 2004 Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.

PMID 22678886 2012 Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.

PMID 23108489 2013 Pregnancy in congenital myasthenic syndrome.

rs769982050 in COLQ gene and Myasthenic Syndromes, Congenital PMID 24281389 2014 COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.

PMID 9689136 1998 Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.

PMID 22678886 2012 Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.