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ABclonal Technology Dopamine beta Hydroxylase
Supplier: ABclonal Technology A23579100UL
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
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