DBH Human

DBH is a 290 kDa enzyme composed of four identical subunits . Each subunit contains a copper ion, which is essential for the enzyme’s catalytic activity. The enzyme is membrane-bound and is primarily found in the noradrenergic nerve terminals of the central and peripheral nervous systems, as well as in the chromaffin cells of the adrenal medulla .

The activity of DBH requires ascorbate (vitamin C) as a cofactor. This enzyme is unique among neurotransmitter-synthesizing enzymes because it is the only one that is membrane-bound and functions within vesicles .

Recombinant human DBH is produced using DNA sequences encoding the human DBH protein. These sequences are expressed in host cells, such as HEK293 cells, to produce the recombinant protein. The recombinant human DBH comprises 598 amino acids and has a predicted molecular mass of 67.3 kDa. Due to glycosylation, the apparent molecular mass of the protein is approximately 68 kDa in SDS-PAGE under reducing conditions .

The recombinant protein is typically purified and lyophilized for storage and shipping. It is stable for up to twelve months when stored at -20°C to -80°C under sterile conditions .

DBH is involved in the synthesis of norepinephrine, which is critical for various physiological functions, including the regulation of blood pressure, mood, and stress responses. Mutations in the DBH gene can lead to dopamine beta-hydroxylase deficiency, a condition characterized by deficits in autonomic and cardiovascular function, such as hypotension and ptosis .

Polymorphisms in the DBH gene have been associated with several psychiatric disorders, including attention deficit hyperactivity disorder (ADHD), schizophrenia, and Alzheimer’s disease . Additionally, DBH has been linked to decision-making and addictive behaviors, such as alcohol and smoking .

Recombinant human DBH is widely used in research to study the enzyme’s structure, function, and role in various diseases. It is also used in drug development to screen for potential inhibitors or modulators of DBH activity. Understanding the mechanisms of DBH and its interactions with other molecules can provide insights into the development of therapeutic strategies for conditions related to catecholamine dysregulation.