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.
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Protein Aliases: Acylcholine acylhydrolase; BtChE; Butyrylcholine esterase; Choline esterase II; Cholinesterase; cholinesterase (serum) 2; cholinesterase 1; EC 18.104.22.168; Pseudocholinesterase
Gene Aliases: BCHE; CHE1; CHE2; E1
UniProt ID: (Human) P06276
Entrez Gene ID: (Human) 590
Molecular Function: esterase