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DBH

Synonyms
DBM, ORTHYP1
External resources
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
23
Likely pathogenic
0
VUS
5,378
Likely benign
2,115
Benign
1,707

Patient phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on DBH gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
30.4%
Abnormality of the nervous system
26.1%
Abnormality of head or neck
17.4%
Abnormality of the immune system
17.4%
Abnormality of the cardiovascular system
13%
Abnormality of the eye
13%
Abnormality of the genitourinary system
13%
Growth abnormality
13%
Abnormality of the integument
8.7%
Abnormal cellular phenotype
4.3%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of prenatal development or birth
4.3%
Abnormality of the digestive system
4.3%
Abnormality of the endocrine system
4.3%
Abnormality of the respiratory system
4.3%
Neoplasm
4.3%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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