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  3. BCHE

BCHE (Butyrylcholinesterase)

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Summary of BCHE

The BCHE gene encodes the pseudocholinesterase enzyme, also known as butyrylcholinesterase, which is produced by the liver and circulates in the blood. The enzyme is involved in the breakdown of certain drugs and also helps protect the body by breaking down certain toxic substances before they reach the nerves (R). 

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The Function of BCHE

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

Protein names

Recommended name:

Cholinesterase

Alternative name(s):

Acylcholine acylhydrolase
Butyrylcholine esterase
Choline esterase II
Pseudocholinesterase

BCHE SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS1523288 (BCHE) ??
  2. RS1799807 (BCHE) ??
  3. RS1803274 (BCHE) ??
  4. RS28933389 (BCHE) ??
  5. RS28933390 (BCHE) ??
  6. RS4365667 (BCHE) ??
  7. RS509208 (BCHE) ??
  8. RS6445035 (BCHE) ??

Top Gene-Substance Interactions

BCHE Interacts with These Diseases

Disease Score

Substances That Increase BCHE

Substances Interaction Organism Category

Substances That Decrease BCHE

Substances Interaction Organism Category

Advanced Summary

     pseudocholinesterase deficiency More than 50 mutations in the BCHE gene have been identified in people with pseudocholinesterase deficiency, a condition that results in increased sensitivity to choline esters and certain other drugs. Some of these mutations replace single protein building blocks (amino acids) in the pseudocholinesterase enzyme, resulting in an abnormal enzyme that does not function properly. Other mutations prevent the production of pseudocholinesterase. A lack (deficiency) of functional pseudocholinesterase enzyme impairs the body's ability to break down choline ester drugs efficiently, leading to abnormally prolonged drug effects.

     The BCHE gene provides instructions for making the pseudocholinesterase enzyme, also known as butyrylcholinesterase, which is produced by the liver and circulates in the blood. The pseudocholinesterase enzyme is involved in the breakdown of certain drugs, including muscle relaxant drugs called choline esters that are used during general anesthesia. These drugs are given to relax the muscles used for movement (skeletal muscles), including the muscles involved in breathing, and are often employed in emergencies when a breathing tube must be inserted quickly. Pseudocholinesterase also helps protect the body by breaking down certain toxic substances before they reach the nerves. These substances include certain pesticides, poisons that attack the nerves, and specific natural toxins including a compound called solanine found in green potato skin. It is likely that the enzyme has other functions in the body, but these functions are not well understood. Studies suggest that the enzyme may be involved in the transmission of nerve signals.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • Nkx3-1 v1
  • Nkx3-1

Tissue specificity:

Detected in blood plasma (at protein level). Present in most cells except erythrocytes.

Gene Pathways:

  • Metabolism
  • Metabolism of proteins
  • Neuronal System

Enzyme Regulation:

Inhibited by mercury. Inhibited by Tabun. Tabun forms a covalent adduct with Ser-226 that becomes irreversible upon aging.

Molecular Function:

  • Acetylcholinesterase Activity
  • Beta-Amyloid Binding
  • Catalytic Activity
  • Choline Binding
  • Cholinesterase Activity
  • Enzyme Binding
  • Hydrolase Activity, Acting On Ester Bonds
  • Identical Protein Binding

Biological Processes:

  • Choline Metabolic Process
  • Cocaine Metabolic Process
  • Learning
  • Negative Regulation Of Cell Proliferation
  • Negative Regulation Of Synaptic Transmission
  • Neuroblast Differentiation
  • Response To Alkaloid
  • Response To Folic Acid
  • Response To Glucocorticoid

Drug Bank:

  • Aclidinium
  • Ambenonium
  • Cinchocaine
  • Doxacurium Chloride
  • Echothiophate
  • Ethopropazine
  • Glycine Betaine
  • Hexafluronium
  • Oxybuprocaine
  • Pyridostigmine
  • Capsaicin
  • Chloroprocaine
  • Chlorpromazine
  • Choline
  • Cisplatin
  • Clevidipine
  • Cyclopentolate
  • Decamethonium
  • Demecarium
  • Dipivefrin
  • Drospirenone
  • Edrophonium
  • Ephedrine
  • Galantamine
  • Irinotecan
  • Malathion
  • Mefloquine
  • Mirabegron
  • Mivacurium
  • Neostigmine
  • Pancuronium
  • Pegvisomant
  • Pentagastrin
  • Perindopril
  • Pralidoxime
  • Procainamide
  • Procaine
  • Ramipril
  • Rivastigmine
  • Succinylcholine
  • Sulpiride
  • Triamcinolone
  • Triflupromazine
  • Trimethaphan
  • Bambuterol
  • Chlorphenesin
  • Diethylcarbamazine
  • Isoflurophate
  • Nizatidine
  • Pipecuronium
  • Terbutaline
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| CHE1| E1| Acylcholine acylhydrolase| acylcholinesterase| Anapl_18615| AS27_03906| AS28_05278| butylcholinesterase| butyrylcholine esterase| CB1_000700009| che| CHE2| Choline esterase II| cholinesterase| cholinesterase 1| cholinesterase (serum) 2| D623_10005128| EQ-BCHE| GW7_09252| H920_01846| I79_018765| M91_14144| M959_07897| MDA_GLEAN10009843| N300_05133| N301_00553| N302_12448| N303_07294| N305_05376| N306_04989| N307_09996| N308_07928| N309_08366| N310_05873| N311_11385| N320_00596| N321_13990| N324_01075| N325_04999| N326_08178| N329_09660| N330_01940| N333_09423| N334_14270| N339_12215| N340_11881| PAL_GLEAN10018416| PANDA_007095| Pseudocholinesterase| TREES_T100010681| UY3_02954| Y1Q_018189| Y956_10161| Z169_04814| bche

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