Dopamine beta Hydroxylase est un gène codé par le symbole DBH. D'autres noms incluent: Dopamine beta-hydroxylase; Dopamine beta-monooxygenase; DBH. Dopamine beta Hydroxylase a une masse de 69.07kDa, une longueur d'acide aminé de 617, et est impliqué dans Orthostatic hypotension 1.
Nous proposons 14 des anticorps contre Dopamine beta Hydroxylase, élevé dans Lapin, Souris et Chèvre, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Conversion of dopamine to noradrenaline.
Résumé 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.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the copper type II ascorbate-dependent monooxygenase family.
Modification post-traductionnelle
N-glycosylated.
Localisation cellulaire
Cytoplasmic vesicle > Secretory vesicle lumen. Cytoplasmic vesicle > Secretory vesicle > Chromaffin granule lumen. Secreted.