COLQ

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COLQ
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases COLQ, EAD, CMS5, collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase, collagen like tail subunit of asymmetric acetylcholinesterase
External IDs MGI: 1338761 HomoloGene: 10437 GeneCards: COLQ
RNA expression pattern
PBB GE COLQ 206073 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_009937

RefSeq (protein)

NP_005668
NP_536799
NP_536800

NP_034067.2
NP_034067

Location (UCSC) Chr 3: 15.45 – 15.52 Mb Chr 14: 31.52 – 31.59 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Acetylcholinesterase collagenic tail peptide also known as AChE Q subunit, acetylcholinesterase-associated collagen, or ColQ is the collagen-tail subunit of acetylcholinesterase found in the neuromuscular junction. In humans it is encoded by the COLQ gene.[3][4]

Function[edit]

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. Multiple transcript variants encoding different isoforms have been found for this gene.[4]

Clinical significance[edit]

Mutations in this gene are associated with endplate acetylcholinesterase deficiency.[4]

References[edit]

External links[edit]

Further reading[edit]