GTR Home > Genes

DBH dopamine beta-hydroxylase

Gene ID: 1621, updated on 26-Nov-2021
Gene type: protein coding
Also known as: DBM; ORTHYP1

Summary

The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. The encoded protein, expressed in neuroscretory vesicles and chromaffin granules of the adrenal medulla, catalyzes the conversion of dopamine to norepinephrine, which functions as both a hormone and as the main neurotransmitter of the sympathetic nervous system. The enzyme encoded by this gene exists exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. Mutations in this gene cause dopamine beta-hydroxylate deficiency in human patients, characterized by deficits in autonomic and cardiovascular function, including hypotension and ptosis. Polymorphisms in this gene may play a role in a variety of psychiatric disorders. [provided by RefSeq, Aug 2017]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Genome-wide meta-analyses identify multiple loci associated with smoking behavior.
GeneReviews: Not available
Orthostatic hypotension 1See labs

Genomic context

Location:
9q34.2
Sequence:
Chromosome: 9; NC_000009.12 (133636363..133659329)
Total number of exons:
12

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center