Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
DBH

DBH

Reviewed September 2008

What is the official name of the DBH gene?

The official name of this gene is “dopamine beta-hydroxylase (dopamine beta-monooxygenase).”

DBH is the gene's official symbol. The DBH gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the DBH gene?

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.

How are changes in the DBH gene related to health conditions?

dopamine beta-hydroxylase deficiency - caused by mutations in the DBH gene

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.

other disorders - increased risk from variations of the DBH gene

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.

Where is the DBH gene located?

Cytogenetic Location: 9q34

Molecular Location on chromosome 9: base pairs 133,636,362 to 133,659,343

The DBH gene is located on the long (q) arm of chromosome 9 at position 34.

The DBH gene is located on the long (q) arm of chromosome 9 at position 34.

More precisely, the DBH gene is located from base pair 133,636,362 to base pair 133,659,343 on chromosome 9.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about DBH?

You and your healthcare professional may find the following resources about DBH helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the DBH gene or gene products?

  • DBM
  • dopamine beta-hydroxylase
  • dopamine beta-monooxygenase
  • DOPO_HUMAN

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding DBH?

References (5 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: September 2008
Published: July 21, 2014