Primary Identifier | MGI:94864 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 13166 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable copper ion binding activity and dopamine beta-monooxygenase activity. Involved in catecholamine metabolic process; locomotory behavior; and positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including behavioral response to ethanol; homoiothermy; and learning or memory. Located in secretory granule lumen and secretory granule membrane. Is expressed in several structures, including adrenal gland; alimentary system; and nervous system. Used to study dopamine beta-hydroxylase deficiency. Human ortholog(s) of this gene implicated in several diseases, including alcohol use disorder; attention deficit hyperactivity disorder; dopamine beta-hydroxylase deficiency; hypertension; and migraine with aura. Orthologous to human DBH (dopamine beta-hydroxylase). PHENOTYPE: Homozygous mutants are embryonic lethal probably due to cardiovascular failure, but survive if treated to replace their dopamine deficit. [provided by MGI curators] |