Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ)

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EAD; Single Strand Of Homotrimeric Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase; AChE Q Subunit; Acetylcholinesterase-Associated Collagen

Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ)
COLQ 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. The cDNA encodes a deduced 455-amino acid protein with 89% homology to the rodent ColQ peptide. Conserved domains include a secretion signal peptide, a proline-rich attachment domain (PRAD) that interacts with AChE(T), 2 cysteines that form disulfide bonds with AChE(T), a collagen domain, conserved cysteines that stabilize the tripal helical domain, and proteoglycan binding domains that anchor the tripal helical domain to the basal lamina.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) CLIA Kit Customized Service Offer
n/a ELISA Kit for Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) CLIA Kit Customized Service Offer
n/a ELISA Kit for Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) CLIA Kit Customized Service Offer
n/a ELISA Kit for Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) ELISA Kit Customized Service Offer
  1. "Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)."Am. J. Hum. Genet. 63:967-975(1998) [PubMed] [Europe PMC] [Abstract]
  2. "Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme."Proc. Natl. Acad. Sci. U.S.A. 95:9654-9659(1998) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Three novel COLQ mutations and variation of phenotypic expressivity due to G240X."Neurology 58:603-609(2002) [PubMed] [Europe PMC] [Abstract]
  6. "An unappreciated role for RNA surveillance."Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract]
  7. "The synaptic acetylcholinesterase tetramer assembles around a polyproline II helix."EMBO J. 23:4394-4405(2004) [PubMed] [Europe PMC] [Abstract]
  8. "The spectrum of mutations causing end-plate acetylcholinesterase deficiency."Ann. Neurol. 47:162-170(2000) [PubMed] [Europe PMC] [Abstract]
  9. "Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family."Pediatr. Neurol. 51:165-169(2014) [PubMed] [Europe PMC] [Abstract]