
Entry - *177400 - BUTYRYLCHOLINESTERASE; BCHE - OMIM
HGNC Approved Gene Symbol: BCHE. Butyrylcholinesterase is a serine hydrolase that catalyzes the hydrolysis of choline esters, including the muscle relaxants succinylcholine and mivacurium (summary by Garcia et al., 2011).
Entry - #617936 - BUTYRYLCHOLINESTERASE DEFICIENCY; BCHED - OMIM
Severe cholinesterase deficiency results in postanesthetic apnea. Individuals deficient in butyrylcholinesterase (BCHE) appear asymptomatic, apart from a heightened sensitivity to muscle relaxants such as suxamethonium (succinylcholine) and mivacurium, 2 …
BUTYRYLCHOLINESTERASE DEFICIENCY; BCHED - OMIM
The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources.
Butyrylcholinesterase deficiency | About the Disease | GARD
Butyrylcholinesterase deficiency is a condition that causes increased sensitivity to certain muscle relaxant drugs used during general anesthesia (choline esters). These drugs relax the muscles used for movement, including those used for breathing. Normally, the muscles are able to move again a few minutes after the drugs are given.
Butyrylcholinesterase - Wikipedia
Butyrylcholinesterase (HGNC symbol BCHE; EC 3.1.1.8), also known as BChE, BuChE, BuChase, pseudocholinesterase, or plasma (cholin)esterase, [5] is a nonspecific cholinesterase enzyme that hydrolyses many different choline-based esters.
Deficiency of butyrylcholinesterase - NIH Genetic Testing Registry …
Individuals deficient in butyrylcholinesterase (BCHE) appear asymptomatic, apart from a heightened sensitivity to muscle relaxants such as suxamethonium (succinylcholine) and mivacurium, 2 BCHE carboxylester substrates.
Butyrylcholinesterase Deficiency via the BCHE Gene
BChE deficiency is an autosomal recessive enzyme disorder that is mainly caused by pathogenic sequence variants in the BCHE gene. The BCHE gene is located on chromosome 3q26.1, consists of 3 coding exons, and spans approximately …
BCHE - SNPedia
Aug 17, 2012 · The BCHE gene codes for the BuChE (butyrylcholinesterase) enzyme. This enzyme binds to various substrates, including Cholinesterase Inhibitors (CIs), and plays a role in protecting the neurotransmitter AChE (acetylcholine) from inhibitition.
BCHE butyrylcholinesterase - NIH Genetic Testing Registry (GTR) …
Jan 4, 2025 · GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors. publications in PubMed explicitly cited by the gene record in OMIM. publications in PubMed limited specific clinical research. sorted by relevance are shown below.
Deficiency of butyrylcholinesterase (Concept Id: C1283400)
Individuals deficient in butyrylcholinesterase (BCHE) appear asymptomatic, apart from a heightened sensitivity to muscle relaxants such as suxamethonium (succinylcholine) and mivacurium, 2 BCHE carboxylester substrates.