Aliases for ACHE Gene
External Ids for ACHE Gene
Previous HGNC Symbols for ACHE Gene
Previous GeneCards Identifiers for ACHE Gene
Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. [provided by RefSeq, Jul 2008]
GeneCards Summary for ACHE Gene
ACHE (Acetylcholinesterase (Yt Blood Group)) is a Protein Coding gene. Diseases associated with ACHE include colonic pseudo-obstruction and gastroschisis. Among its related pathways are Integrated Pancreatic Cancer Pathway and Metabolism. GO annotations related to this gene include protein homodimerization activity and collagen binding. An important paralog of this gene is CES2.
UniProtKB/Swiss-Prot for ACHE Gene
Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine released into the synaptic cleft. Role in neuronal apoptosis.
Cholinesterases inactivate the neurotransmitter acetylcholine by catalyzing its hydrolysis to choline and acetic acid. Acetylcholinesterase (AChE) is found in erythroid cells and at neuronal synapses, whilst butyrylcholinesterase is mostly expressed in the liver. The high enzymatic rate of AChE means that it effectively terminates signal transmission at cholinergic synpases. AChE is the target of organophosphate nerve agents such as sarin and VX. Clinically, AChE inhibitors have found a number of uses, with physostigmine used to treat glaucoma. AChE inhibitors are also used in the management of mild to moderate Alzheimer's disease.