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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for COLQ (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID8292
Official gene symbolCOLQ
Full namecollagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
Aliases,EAD,FLJ55041,
Gene summaryThis 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]
LocationChromosome: 3   Locus: 3p25
Gene position15563258 - 15491640  Map Viewer
Gene orientationminus
Gene size71619 bp
Gene sequence
OMIM ID603033