The DBH gene provides instructions for producing the enzyme dopamine beta (β)-hydroxylase. This enzyme converts dopamine to norepinephrine, both of which are chemical messengers (neurotransmitters) that transmit signals between nerve cells. 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
At least six mutations in the DBH gene have been found to cause dopamine β-hydroxylase deficiency. The most common mutation (usually written as IVS1+2T>C) interferes with the normal processing of dopamine β-hydroxylase. As a result of this mutation, an abnormally short, nonfunctional version of the enzyme is produced. A lack of functional dopamine β-hydroxylase leads to a shortage of norepinephrine, which causes difficulty with regulating blood pressure and other autonomic nervous system problems seen in dopamine β-hydroxylase deficiency.More About This Health Condition
Studies have shown certain variations (polymorphisms) in the DBH gene to be associated with increased risk of attention-deficit/hyperactivity disorder (ADHD). DBH gene polymorphisms are also thought to increase the risk of psychotic symptoms in people with schizophrenia or unipolar major depression. Other studies, however, have not supported these findings. Many genetic and environmental factors are believed to contribute to these complex conditions.
Other Names for This Gene
- dopamine beta-hydroxylase (dopamine beta-monooxygenase)
- dopamine beta-monooxygenase
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
- Cubells JF, Zabetian CP. Human genetics of plasma dopamine beta-hydroxylase activity: applications to research in psychiatry and neurology. Psychopharmacology (Berl). 2004 Aug;174(4):463-76. doi: 10.1007/s00213-004-1840-8. Epub 2004 Apr 16. Citation on PubMed
- Kim CH, Zabetian CP, Cubells JF, Cho S, Biaggioni I, Cohen BM, Robertson D, Kim KS. Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. Am J Med Genet. 2002 Mar 1;108(2):140-7. Citation on PubMed
- Vincent S, Robertson D. The broader view: catecholamine abnormalities. Clin Auton Res. 2002 May;12 Suppl 1:I44-9. doi: 10.1007/s102860200018. Citation on PubMed
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