Gene: DBH

Alternate names for this Gene: DBM|ORTHYP1

Gene 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.2

Description of this Gene: dopamine beta-hydroxylase

Type of Gene: protein-coding

rs1108581 in DBH gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs3025393 in DBH gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs3025380 in DBH gene and Mean blood pressure PMID 27618448 2016 Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

rs267606760 in DBH gene and ORTHOSTATIC HYPOTENSION 1 PMID 11857564 2002 Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency.

PMID 21209083 2011 Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase.

PMID 21471955 2011 Neurocognitive function in dopamine-β-hydroxylase deficiency.

PMID 14598346 2003 A revised allele frequency estimate and haplotype analysis of the DBH deficiency mutation IVS1+2T --> C in African- and European-Americans.

PMID 27778639 2017 Hyperinsulinemia and Insulin Resistance in Dopamine β-Hydroxylase Deficiency.

PMID 15060114 2004 DBH gene variants that cause low plasma dopamine beta hydroxylase with or without a severe orthostatic syndrome.

rs3025393 in DBH gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1108581 in DBH gene and Squamous cell carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs1108581 in DBH gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.