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BCHE gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

BCHE gene

The BCHE gene provides instructions for producing the enzyme pseudocholinesterase, which is essential for breaking down certain medications and toxic substances.

Normal Function

The BCHE gene provides instructions for making an enzyme called pseudocholinesterase (also known as butyrylcholinesterase). Produced by the liver and circulating in the blood, this enzyme is responsible for breaking down specific substances, including the medications succinylcholine and mivacurium, which are used during general anesthesia to relax skeletal muscles.

Pseudocholinesterase also protects the body by breaking down toxic substances, such as certain agricultural pesticides, street drugs, and solanine (found in green potato skin). Researchers also suspect the enzyme plays a role in the growth and maturation of neurons in the developing brain.

Health Conditions Related to Genetic Changes

Pseudocholinesterase deficiency

Variants in the BCHE gene can cause pseudocholinesterase deficiency. This condition results in increased sensitivity to substances like succinylcholine and mivacurium. Some variants cause the production of a non-functional enzyme, while others prevent the body from making the enzyme entirely.

Key points regarding this condition include:

  • Inheritance: The condition occurs when there are variants in both copies of the BCHE gene.
  • Clinical Impact: A lack of functional pseudocholinesterase impairs the body's ability to break down certain substances.
  • Partial Deficiency: People with a variant in only one copy of the gene may take longer than usual to clear these substances from the body, though typically not as long as those with variants in both copies.

Genomic Location

The BCHE gene is found on chromosome 3.

Frequently Asked Questions

Partial deficiency usually does not affect daily life, but it is prudent to inform all healthcare providers. Certain over‑the‑counter products containing ester‑type local anesthetics or some pesticide exposures may be cleared more slowly; avoiding prolonged exposure and using protective equipment is advisable.
BCHE deficiency is inherited in an autosomal‑recessive manner. Both parents must carry a pathogenic variant for a child to be homozygously deficient. Carrier testing can identify heterozygotes, and prenatal or pre‑implantation genetic diagnosis is possible if both partners are carriers.
Succinylcholine and mivacurium are metabolized primarily by pseudocholinesterase and can cause prolonged paralysis. In deficient individuals, anesthesiologists use non‑depolarizing agents (e.g., rocuronium) with reversal agents, or they reduce the dose and extend monitoring of neuromuscular function.
Pre‑operative screening includes a dibucaine number test (measuring inhibition of the enzyme by dibucaine) or a plasma cholinesterase activity assay. Low activity or a dibucaine number ≤ 50 % suggests homozygous deficiency; intermediate values indicate heterozygosity.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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