| Protein Name | dopamine beta-hydroxylase |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 1621 |
| Gene Symbol | DBH |
| UniProt | P09172 (DOPO_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
403
Total Number of Articles : 654 |
Description |
dopamine beta-hydroxylase |
| 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. [provided by RefSeq, Aug 2017] |
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