BCHE

This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]

Full Name

Butyrylcholinesterase

Function

Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters.

Biological Process

Choline metabolic process Source: Ensembl
Cocaine metabolic process Source: UniProtKB
Learning Source: Ensembl
Negative regulation of cell population proliferation Source: Ensembl
Negative regulation of synaptic transmission Source: Ensembl
Neuroblast differentiation Source: Ensembl
Response to alkaloid Source: Ensembl
Response to drug Source: Ensembl
Response to folic acid Source: Ensembl
Response to glucocorticoid Source: Ensembl

Cellular Location

Secreted

Involvement in disease

Butyrylcholinesterase deficiency (BCHED): An autosomal recessive metabolic condition characterized by increased sensitivity to certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium. BCHED results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency.

PTM

N-glycosylated. No other PTM detected (PubMed:20946535). The major N-glycan structures are of the complex diantennary type with 1 and 2 N-acetylneuraminic acid molecules (Neu5Ac) making up approximately 33% and 47% of the total N-glycans, respectively. Only low amounts of fucosylated diantennary N-glycans are detected (approximately 2%). Triantennary N-glycans with or without fucose amount to approximately 13%, whereas 5% of the total N-glycans are of the oligomannosidic or hybrid type.