[5] It is the only enzyme involved in the synthesis of small-molecule neurotransmitters that is membrane-bound, making norepinephrine the only known transmitter synthesized inside vesicles.
[6] DBH activity in human serum could be estimated by a spectrophotometric method [12] or with the aid of Ultra high performance liquid chromatography with Photo Diode Array detector (UHPLC-PDA).
[13] A sensitive assay for the detection of DBH activity in cerebrospinal fluid using High-performance liquid chromatography with Electrochemical detector(HPLC-ECD) was also described earlier.
Mutations identified in dopamine beta hydroxylase deficiency[19] and non-synonymous SNPs such as rs6271 in this gene were found to cause defective secretion of the protein from the endoplasmic reticulum.
It also participates in the metabolism of xenobiotics related to these substances; for example, the human DBH enzyme catalyzes the beta-hydroxylation of amphetamine and para-hydroxyamphetamine, producing norephedrine and para-hydroxynorephedrine respectively.
[21][22][23] DBH has been implicated as correlating factor in conditions associated with decision making and addictive drugs, e.g., alcoholism[24] and smoking,[25] attention deficit hyperactivity disorder,[26] schizophrenia,[27] and Alzheimer's disease.
[29] Further these SNPs (rs1989787;rs1611115) and a distal promoter variant 19bp Ins/Del(rs141116007) were associated with scores of Abnormal Involuntary Movement Scale in tardive dyskinesia positive schizophrenia subjects.