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

DBH gene

The DBH gene provides instructions for an enzyme that converts dopamine to norepinephrine, a critical neurotransmitter for regulating involuntary body processes.

Normal Function

The DBH gene provides instructions for producing the enzyme dopamine beta-hydroxylase. This enzyme converts dopamine to norepinephrine. Both are chemical messengers (neurotransmitters) that transmit signals from nerve cells to other cells in the body. Norepinephrine plays an important role in the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature.

Health Conditions Related to Genetic Changes

Dopamine beta-hydroxylase deficiency

Several variants in the DBH gene have been found to cause dopamine beta-hydroxylase deficiency, a rare condition that affects the autonomic nervous system. The most common variant interferes with the normal processing of the enzyme, causing the cell to produce an abnormally short, nonfunctional version. Most variants interfere with the cell's ability to produce functional dopamine beta-hydroxylase, resulting in the absence of norepinephrine and leading to the signs and symptoms of the deficiency.

Other Names for This Gene

  • DBM
  • dopamine beta-monooxygenase
  • ORTHYP1

Frequently Asked Questions

Individuals with dopamine beta-hydroxylase deficiency often experience symptoms related to the autonomic nervous system, which controls involuntary body functions. These can include severe low blood pressure upon standing (orthostatic hypotension), leading to dizziness or fainting, drooping eyelids, nasal congestion, and difficulty regulating body temperature.
Diagnosis typically involves measuring levels of neurotransmitters in the blood or urine. In dopamine beta-hydroxylase deficiency, there will be high levels of dopamine and significantly low or absent levels of norepinephrine and epinephrine. Genetic testing can confirm the diagnosis by identifying mutations in the DBH gene.
Treatment primarily involves replacing the missing norepinephrine. This is often done with a medication called droxidopa (L-threo-3,4-dihydroxyphenylserine), which the body can convert directly into norepinephrine. This helps manage symptoms like orthostatic hypotension and improve autonomic function.
Norepinephrine is a crucial neurotransmitter that helps regulate many involuntary body processes, including blood pressure, heart rate, and body temperature, as part of the autonomic nervous system. When a DBH gene mutation leads to a deficiency of the enzyme that produces norepinephrine, these vital functions become impaired, resulting in symptoms like severe low blood pressure and difficulty with temperature regulation.
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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