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- Table of Contents
Facts about Acetylcholinesterase collagenic tail peptide.
Human | |
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Gene Name: | COLQ |
Uniprot: | Q9Y215 |
Entrez: | 8292 |
Belongs to: |
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COLQ family |
acetylcholinesterase collagenic tail peptide; AChE Q subunit; collagenic tail of endplate acetylcholinesterase; collagen-like tail subunit (single strand of homotrimer) of asymmetricacetylcholinesterase; EADAcetylcholinesterase-associated collagen; FLJ55041; single strand of homotrimeric collagen-like tail subunit of asymmetricacetylcholinesterase
Mass (kDA):
47.766 kDA
Human | |
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Location: | 3p25.1 |
Sequence: | 3; NC_000003.12 (15450133..15521706, complement) |
Found at the end plate of skeletal muscle.
Cell junction, synapse.
PMID: 9758617 by Donger C., et al. Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).
PMID: 9689136 by Ohno K., et al. Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.