COLQ 抗体
(AChE Q Subunit (COLQ))
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. [provided by RefSeq, Jul 2008].
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Latest Publications for our COLQ 抗体
: "Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes." in: Brain : a journal of neurology, Vol. 131, Issue Pt 3, pp. 747-59, (2008) (PubMed).: "Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives." in: Neuromuscular disorders : NMD, Vol. 17, Issue 3, pp. 262-5, (2007) (PubMed).
: "Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency." in: Neuromuscular disorders : NMD, Vol. 13, Issue 3, pp. 236-44, (2003) (PubMed).
Aliases for COLQ 抗体
collagen like tail subunit of asymmetric acetylcholinesterase (COLQ) 抗体collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (Colq) 抗体
collagen like tail subunit of asymmetric acetylcholinesterase (Colq) 抗体
A130034K24Rik 抗体
EAD 抗体
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