Dopamine beta Hydroxylase è un gene codificato dal simbolo DBH. Altri nomi includono: Dopamine beta-hydroxylase; Dopamine beta-monooxygenase; DBH. Dopamine beta Hydroxylase ha una massa di 69.07kDa, una lunghezza di amminoacidi di 617, ed è implicato in Orthostatic hypotension 1.
Offriamo 14 anticorpi contro Dopamine beta Hydroxylase, allevati nel Coniglio, Topo e Capra, che sono adatti per WB, IHC e ELISA con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Conversion of dopamine to noradrenaline.
Sommario di Entrez
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.
Coinvolgimento nella malattia
Orthostatic hypotension 1: A form of orthostatic hypotension due to congenital dopamine beta-hydroxylase deficiency. Orthostatic hypotension, also known as postural hypotension, is a finding defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure occurring 3 minutes after a person has risen from supine to standing. Symptoms include dizziness, blurred vision, and sometimes syncope. ORTHYP1 is an autosomal recessive condition apparent from infancy or early childhood and characterized by low plasma and urinary levels of norepinephrine and epinephrine, and episodic hypoglycemia.
Somiglianze di sequenza
Belongs to the copper type II ascorbate-dependent monooxygenase family.
Modifica post-translazionale
N-glycosylated.
Posizione cellulare
Cytoplasmic vesicle > Secretory vesicle lumen. Cytoplasmic vesicle > Secretory vesicle > Chromaffin granule lumen. Secreted.