Entity Details

Primary name DBH
Entity type gene
Source Source Link

Details

PrimaryID1621
RefseqGeneNG_008645
SymbolDBH
Namedopamine beta-hydroxylase
Chromosome9
Location9q34.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1989-05-01
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsDOPO_HUMAN

GO terms

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GOName
GO:0001974 blood vessel remodeling
GO:0001975 response to amphetamine
GO:0002443 leukocyte mediated immunity
GO:0003824 catalytic activity
GO:0004500 dopamine beta-monooxygenase activity
GO:0005507 copper ion binding
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0006589 octopamine biosynthetic process
GO:0007268 chemical synaptic transmission
GO:0007613 memory
GO:0007626 locomotory behavior
GO:0008542 visual learning
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030658 transport vesicle membrane
GO:0030667 secretory granule membrane
GO:0031418 L-ascorbic acid binding
GO:0034451 centriolar satellite
GO:0034466 chromaffin granule lumen
GO:0034774 secretory granule lumen
GO:0042127 regulation of cell population proliferation
GO:0042309 homoiothermy
GO:0042420 dopamine catabolic process
GO:0042421 norepinephrine biosynthetic process
GO:0042423 catecholamine biosynthetic process
GO:0042584 chromaffin granule membrane
GO:0042593 glucose homeostasis
GO:0042596 fear response
GO:0042711 maternal behavior
GO:0043231 intracellular membrane-bounded organelle
GO:0045202 synapse
GO:0045907 positive regulation of vasoconstriction
GO:0048149 behavioral response to ethanol
GO:0048265 response to pain
GO:0050900 leukocyte migration
GO:0120162 positive regulation of cold-induced thermogenesis
GO:2001236 regulation of extrinsic apoptotic signaling pathway

Diseases

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Disease IDSourceNameDescription
223360 OMIMOrthostatic 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. The disease is caused by variants affecting the gene represented in this entry.