Aliases for BCHE Gene
Previous HGNC Symbols for BCHE Gene
Previous GeneCards Identifiers for BCHE Gene
Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage. [provided by RefSeq, Jul 2008]
GeneCards Summary for BCHE Gene
BCHE (Butyrylcholinesterase) is a Protein Coding gene. Diseases associated with BCHE include pseudocholinesterase deficiency and cocaine intoxication. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include identical protein binding and hydrolase activity. An important paralog of this gene is CES2.
UniProtKB/Swiss-Prot for BCHE Gene
Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters.
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.