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Immunogen sequence: MGPKGERGFP GPPGRCLCGP TMNVNNPSYG ESVYGPSSPR VPVIFVVNNQ EELERLNTQN AIAFRRDQRS LYFKDSLGWL PIQLTPFYPV DYTADQHGTC GDGLLQPGEE CDDGNSDVGD DCIRCHRAYC GDGHRHEGVE DCDGSDFGYL TCETYLPGSY GDLQCTQYCY IDSTPCRYFT
COLQ (collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase), also known as EAD, is a 455 amino acid protein that localizes to the end plate of skeletal muscle. COLQ anchors the catalytic subunits of asymmetric AChE (acetylcholinesterase) to the basal lamina at the neuromuscular junctions of vertebrates. Mutations of COLQ lead to congenital myasthenic syndromes which are rare autosomal recessive diseases characterized by general weakness increased by exertion, ophthalmoplegia and refractoriness to anticholinesterase drugs. Eight isoforms exist due to alternative splicing events.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Acetylcholinesterase collagenic tail peptide; Acetylcholinesterase-associated collagen; AChE Q subunit; collagen-like tail subunit of asymmetric acetylcholinesterase
基因别名: A130034K24Rik; Colq
UniProt ID: (Mouse) O35348, (Rat) O35167
Entrez Gene ID: (Mouse) 382864, (Rat) 29755