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Protein Page:
COLQ (human)

Overview
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. Note: This description may include information from UniProtKB.
Protein type: Extracellular matrix
Chromosomal Location of Human Ortholog: 3p25
Cellular Component: basal lamina; extracellular space
Molecular Function: protein binding
Biological Process: acetylcholine catabolic process in synaptic cleft; asymmetric protein localization
Disease: Endplate Acetylcholinesterase Deficiency
Reference #:  Q9Y215 (UniProtKB)
Alt. Names/Synonyms: Acetylcholinesterase collagenic tail peptide; Acetylcholinesterase-associated collagen; AChE Q subunit; collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase; collagenic tail of endplate acetylcholinesterase; COLQ; EAD; FLJ55041; single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase
Gene Symbols: COLQ
Molecular weight: 47,766 Da
Basal Isoelectric point: 8.42  Predict pI for various phosphorylation states
Select Structure to View Below

COLQ

Protein Structure Not Found.
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