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COLQ  -  collagen-like tail subunit (single strand...

Homo sapiens

 
 
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Disease relevance of COLQ

 

High impact information on COLQ

  • The collagen-tailed form of AChE, which is normally concentrated at NMJs, is composed of catalytic tetramers associated with a specific collagen, COLQ [2].
  • We determined the COLQ coding sequence and found that the patients present a homozygous missense mutation, Y431S, in the conserved C-terminal domain of COLQ [2].
  • We first excluded the ACHE gene (7q22) as potential culprit, by linkage analysis; then we mapped COLQ to chromosome 3p24 [2].
  • The ACHET gene has been cloned in humans; COLQ cDNA has been cloned in Torpedo and rodents but not in humans [3].
  • Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic) [2].
 

Anatomical context of COLQ

References

  1. Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. Shapira, Y.A., Sadeh, M.E., Bergtraum, M.P., Tsujino, A., Ohno, K., Shen, X.M., Brengman, J., Edwardson, S., Matoth, I., Engel, A.G. Neurology (2002) [Pubmed]
  2. Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). Donger, C., Krejci, E., Serradell, A.P., Eymard, B., Bon, S., Nicole, S., Chateau, D., Gary, F., Fardeau, M., Massoulié, J., Guicheney, P. Am. J. Hum. Genet. (1998) [Pubmed]
  3. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. Ohno, K., Brengman, J., Tsujino, A., Engel, A.G. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  4. The spectrum of mutations causing end-plate acetylcholinesterase deficiency. Ohno, K., Engel, A.G., Brengman, J.M., Shen, X.M., Heidenreich, F., Vincent, A., Milone, M., Tan, E., Demirci, M., Walsh, P., Nakano, S., Akiguchi, I. Ann. Neurol. (2000) [Pubmed]
  5. Transcriptional regulation of acetylcholinesterase-associated collagen ColQ in fast- and slow-twitch muscle fibers. Ting, A.K., Siow, N.L., Kong, L.W., Tsim, K.W. Chem. Biol. Interact. (2005) [Pubmed]
  6. Transcriptional regulation of acetylcholinesterase-associated collagen ColQ: differential expression in fast and slow twitch muscle fibers is driven by distinct promoters. Lee, H.H., Choi, R.C., Ting, A.K., Siow, N.L., Jiang, J.X., Massoulié, J., Tsim, K.W. J. Biol. Chem. (2004) [Pubmed]
  7. Wild-type and A328W mutant human butyrylcholinesterase tetramers expressed in Chinese hamster ovary cells have a 16-hour half-life in the circulation and protect mice from cocaine toxicity. Duysen, E.G., Bartels, C.F., Lockridge, O. J. Pharmacol. Exp. Ther. (2002) [Pubmed]
 
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