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DBH gene
URL of this page: https://medlineplus.gov/genetics/gene/dbh/

DBH gene

dopamine beta-hydroxylase

Normal Function

The DBH gene provides instructions for producing the enzyme dopamine beta-hydroxylase. This enzyme converts dopamine to norepinephrine. Both dopamine and norepinephrine 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 (also called mutations) in the DBH gene have been found to cause dopamine beta-hydroxylase deficiency, a rare condition that affects the autonomic nervous system. The variant that is most often seen in people with dopamine beta-hydroxylase deficiency interferes with the normal processing of dopamine beta-hydroxylase. This variant causes the cell to produce an abnormally short, nonfunctional version of the enzyme. Most variants interfere with the cell's ability to produce functional dopamine beta-hydroxylase. This results in the absence of norepinephrine, leading to the signs and symptoms of dopamine beta-hydroxylase deficiency.

More About This Health Condition

Other Names for This Gene

  • DBM
  • dopamine beta-monooxygenase
  • ORTHYP1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Biaggioni I. Dopamine Beta-Hydroxylase Deficiency. 2003 Sep 4 [updated 2024 Sep 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK1474/ 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
  • Wassenberg T, Deinum J, van Ittersum FJ, Kamsteeg EJ, Pennings M, Verbeek MM, Wevers RA, van Albada ME, Kema IP, Versmissen J, van den Meiracker T, Lenders JWM, Monnens L, Willemsen MA. Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency. J Inherit Metab Dis. 2021 May;44(3):554-565. doi: 10.1002/jimd.12321. Epub 2020 Oct 15. Citation on PubMed

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.