NP_536800.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
33,538 Da
NCBI Official Full Name
acetylcholinesterase collagenic tail peptide isoform III
NCBI Official Synonym Full Names
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
NCBI Official Synonym Symbols
NCBI Protein Information
acetylcholinesterase collagenic tail peptide; AChE Q subunit; acetylcholinesterase-associated collagen; collagenic tail of endplate acetylcholinesterase; single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase
UniProt Protein Name
Acetylcholinesterase collagenic tail peptide
UniProt Synonym Protein Names
AChE Q subunit; Acetylcholinesterase-associated collagen
UniProt Entry Name
COLQ_HUMAN
NCBI Summary for 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]
UniProt Comments for COLQ
COLQ: Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina. Defects in COLQ are the cause of congenital myasthenic syndrome Engel type (CMSE); also known as end-plate acetylcholinesterase deficiency or congenital myasthenic syndrome type IC (CMS-IC). CMSE is a rare autosomal recessive congenital myasthenic syndrome characterized by onset during childhood, generalized weakness, abnormal fatigability on exertion, refrectoriness to acetylcholinesterase drugs, decremental electromyographic response and morphological abnormalities of the neuromuscular junctions. Belongs to the COLQ family. 8 isoforms of the human protein are produced by alternative splicing.
Protein type: Extracellular matrix
Chromosomal Location of Human Ortholog: 3p25
Cellular Component: extracellular space; collagen; basal lamina; synapse; cell junction
Molecular Function: protein binding
Biological Process: asymmetric protein localization; acetylcholine catabolic process in synaptic cleft
Disease: Endplate Acetylcholinesterase Deficiency
Research Articles on COLQ
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Diseases associated with COLQ elisa kit
Organs/Tissues associated with COLQ elisa kit
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