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.

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 136,501,484 to 136,524,465

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 136,501,484 to base pair 136,524,465 on chromosome 9.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about DBH?

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

Educational resources - Information pages
- Basic Neurochemistry (sixth edition, 1999): Biosynthesis of Catecholamines (http://www.ncbi.nlm.nih.gov/books/NBK27988/)
- Endocrinology (first edition, 2001): Biosynthesis and control of catecholamines secreted by the adrenal medulla (http://www.ncbi.nlm.nih.gov/books/NBK26/?rendertype=box&id=A467)
- Endocrinology (first edition, 2001): Catecholamine synthesis and secretion (http://www.ncbi.nlm.nih.gov/books/NBK26/)
- Neuroscience (second edition, 2001): The Biogenic Amines (http://www.ncbi.nlm.nih.gov/books/NBK11035/)
Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1474/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for DBH (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1621%5Bgeneid%5D)

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

PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((DBH%5BTIAB%5D)%20OR%20(dopamine%20beta-hydroxylase%5BTI%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201080%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/609312)
Research Resources - Tools for researchers
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/1621)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=1621)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=2689)

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

DBM
dopamine beta-hydroxylase
dopamine beta-monooxygenase
DOPO_HUMAN

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding DBH?

ADHD ; attention deficit hyperactivity disorder ; autonomic nervous system ; deficiency ; depression ; dopamine ; enzyme ; gene ; hyperactivity ; involuntary ; mutation ; nervous system ; neurotransmitters ; psychotic ; schizophrenia

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

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. Epub 2004 Apr 16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15088079?dopt=Abstract)
Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/1621)
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. (http://www.ncbi.nlm.nih.gov/pubmed/11857564?dopt=Abstract)
OMIM: DOPAMINE BETA-HYDROXYLASE, PLASMA (http://omim.org/entry/609312)
Vincent S, Robertson D. The broader view: catecholamine abnormalities. Clin Auton Res. 2002 May;12 Suppl 1:I44-9. (http://www.ncbi.nlm.nih.gov/pubmed/12102462?dopt=Abstract)

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.



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DBH