Aliases for DBH Gene
External Ids for DBH Gene
Previous GeneCards Identifiers for DBH Gene
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]
GeneCards Summary for DBH Gene
DBH (Dopamine Beta-Hydroxylase) is a Protein Coding gene. Diseases associated with DBH include Orthostatic Hypotension 1 and Dopamine Beta-Hydroxylase Deficiency. Among its related pathways are Sympathetic Nerve Pathway (Neuroeffector Junction) and Phenylalanine metabolism. Gene Ontology (GO) annotations related to this gene include copper ion binding and L-ascorbic acid binding. An important paralog of this gene is MOXD1.
UniProtKB/Swiss-Prot Summary for DBH Gene
Conversion of dopamine to noradrenaline.