Aliases for COLQ Gene
- Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase 2 3 5
- Acetylcholinesterase-Associated Collagen 2 3 4
- AChE Q Subunit 2 3 4
- Single Strand Of Homotrimeric Collagen-Like Tail Subunit Of Asymmetric Acetylcholinesterase 2 3
- Collagen-Like Tail Subunit (Single Strand Of Homotrimer) Of Asymmetric Acetylcholinesterase 2 3
External Ids for COLQ Gene
Previous GeneCards Identifiers for COLQ Gene
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, Jul 2008]
GeneCards Summary for COLQ Gene
COLQ (Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase) is a Protein Coding gene. Diseases associated with COLQ include Myasthenic Syndrome, Congenital, 5 and Congenital Myasthenic Syndrome. An important paralog of this gene is COL5A1.
UniProtKB/Swiss-Prot Summary for COLQ Gene
Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina.