Entrez gene ID | | 8292 |
Official gene symbol | | COLQ |
Full name | | collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase |
Aliases | | ,EAD,FLJ55041, |
Gene summary | | 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] |
Location | | Chromosome: 3 Locus: 3p25 |
Gene position | | 15563258 - 15491640 Map Viewer |
Gene orientation | | minus |
Gene size | | 71619 bp |
Gene sequence |
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OMIM ID | | 603033 |