DBH

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]

Full Name

Dopamine Beta-Hydroxylase

Function

Conversion of dopamine to noradrenaline.

Biological Process

Behavioral response to ethanol Source: Ensembl
Blood vessel remodeling Source: Ensembl
Catecholamine biosynthetic process Source: Reactome
Chemical synaptic transmission Source: ProtInc
Dopamine catabolic process Source: UniProtKB
Fear response Source: Ensembl
Glucose homeostasis Source: Ensembl
Homoiothermy Source: Ensembl
Leukocyte mediated immunity Source: Ensembl
Leukocyte migration Source: Ensembl
Locomotory behavior Source: Ensembl
Maternal behavior Source: Ensembl
Memory Source: Ensembl
Norepinephrine biosynthetic process Source: UniProtKB
Octopamine biosynthetic process Source: GO_Central
Positive regulation of cold-induced thermogenesis Source: YuBioLab
Positive regulation of vasoconstriction Source: Ensembl
Regulation of cell population proliferation Source: Ensembl
Regulation of extrinsic apoptotic signaling pathway Source: Ensembl
Response to amphetamine Source: Ensembl
Response to pain Source: Ensembl
Visual learning Source: Ensembl

Cellular Location

Soluble dopamine beta-hydroxylase: Secreted; Secretory vesicle lumen; Chromaffin granule lumen; Secretory vesicle membrane; Chromaffin granule membrane

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.

Topology

Cytoplasmic: 1-176
Helical: 17-37
Intragranular: 38-617

PTM

N-glycosylated.
Proteolytic cleavage after the membrane-anchor leads to the release of the soluble form.