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The human gene encoding acetylcholinesterase is located on the long arm of chromosome 7.
Department of Pharmacology, University of California-San Diego, La Jolla 92093-0636.
Acetylcholinesterase (AChE) is a secreted enzyme essential for regulating cholinergic neurotransmission at neuronal and neuromuscular synapses. In view of the altered expression of AChE in some central neurological and neuromuscular disorders with a probable genetic basis, we have identified the chromosomal location of the gene encoding AChE. Chromosomal in situ suppression hybridization analysis revealed a single gene to be at 7q22, a result which was confirmed by PCR analysis of genomic DNA from a human/hamster somatic cell hybrid containing a single human chromosome 7. The AChE gene thus maps to the same region in which frequent nonrandom chromosome 7 deletions occur in leukemias of myeloid cell precursors known to express the enzyme during normal differentiation.
PMID: 1609795 [PubMed - indexed for MEDLINE]
PMCID: PMC1682883
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Cited by 4 PubMed Central articles
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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 AP, Eymard B, Bon S, Nicole S, Chateau D, Gary F, Fardeau M, Massoulié J, et al.
Am J Hum Genet. 1998 Oct; 63(4):967-75.
[Am J Hum Genet. 1998]
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Mutation at codon 322 in the human acetylcholinesterase (ACHE) gene accounts for YT blood group polymorphism.
Bartels CF, Zelinski T, Lockridge O.
Am J Hum Genet. 1993 May; 52(5):928-36.
[Am J Hum Genet. 1993]
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Expression of a human acetylcholinesterase promoter-reporter construct in developing neuromuscular junctions of Xenopus embryos.
Ben Aziz-Aloya R, Seidman S, Timberg R, Sternfeld M, Zakut H, Soreq H.
Proc Natl Acad Sci U S A. 1993 Mar 15; 90(6):2471-5.
[Proc Natl Acad Sci U S A. 1993]
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