|
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 |
|
Cellular Component: extracellular space; collagen; basal lamina; cell junction
|
|
Molecular Function: heparin binding; protein binding
|
|
Biological Process: asymmetric protein localization; acetylcholine catabolic process in synaptic cleft
|
|
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
|
