Dopamine beta-hydroxylase
Function
Catalyzes the hydroxylation of dopamine to noradrenaline (also known as norepinephrine), and is thus vital for regulation of these neurotransmitters.
Involvement in disease
Orthostatic hypotension 1
ORTHYP1
A form of orthostatic hypotension due to congenital dopamine beta-hydroxylase deficiency. Orthostatic hypotension, also known as postural hypotension, is a finding defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure occurring 3 minutes after a person has risen from supine to standing. Symptoms include dizziness, blurred vision, and sometimes syncope. ORTHYP1 is an autosomal recessive condition apparent from infancy or early childhood and characterized by low plasma and urinary levels of norepinephrine and epinephrine, and episodic hypoglycemia.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Catecholamine biosynthesis; (R)-noradrenaline biosynthesis; (R)-noradrenaline from dopamine: step 1/1.
Post-translational modifications
N-glycosylated.
Proteolytic cleavage after the membrane-anchor leads to the release of the soluble form.
Sequence Similarities
Belongs to the copper type II ascorbate-dependent monooxygenase family.
Cellular localization
- Soluble dopamine beta-hydroxylase
- Cytoplasmic vesicle
- Secretory vesicle lumen
- Cytoplasmic vesicle
- Secretory vesicle
- Chromaffin granule lumen
- Secreted
- Cytoplasmic vesicle
- Secretory vesicle membrane
- Single-pass type II membrane protein
- Cytoplasmic vesicle
- Secretory vesicle
- Chromaffin granule membrane
- Single-pass type II membrane protein
Alternative names
Dopamine beta-hydroxylase, Dopamine beta-monooxygenase, DBH