Butyrylcholinesterase (BCHE) Active Protein

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]

BCHE: Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters. Defects in BCHE are the cause of butyrylcholinesterase deficiency (BChE deficiency). BChE deficiency is a metabolic disorder characterized by prolonged apnoea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency. BChE deficiency is a multifactorial disorder. The hereditary condition is transmitted as an autosomal recessive trait. Belongs to the type-B carboxylesterase/lipase family.

Protein type: Secreted; Hydrolase; EC 3.1.1.8; Nuclear envelope; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 3q26.1-q26.2

Cellular Component: membrane; endoplasmic reticulum lumen; nuclear envelope lumen; extracellular region

Molecular Function: identical protein binding; choline binding; enzyme binding; cholinesterase activity; beta-amyloid binding; acetylcholinesterase activity; catalytic activity

Biological Process: response to alkaloid; response to drug; negative regulation of cell proliferation; choline metabolic process; cocaine metabolic process; cellular protein metabolic process; response to folic acid; response to glucocorticoid stimulus; neuroblast differentiation; learning; negative regulation of synaptic transmission