Gene: [09q343/DBH] dopamine beta-monooxygenase (dopamine beta-hydroxylase); congenital orthostatic hypotension;
FUN | [1]
Dopamine beta-monooxygenase is involved in catecholamine metabolism.
[2] Systematic name: 3,4-dihydroxyphenethylamine,ascorbate:oxygen oxidreductase (beta-hydroxylating). Catalyzes reaction: 3,4-dihydroxyphenethylamine + ascorbate + O(2) = noradrenaline + dehydroascorbate + H(2)O." |
TIS | The enzyme is found in neuronal synaptic vesicles, cerebrospinal fluid, and serum." |
REF | FOG,MAP "Asamoah &: Am J Med Genet, 27, 613-621, 1987 PAT,TER "Biaggioni, Robertson: Lancet, 2, 1170-1172, 1987 CLO,LOC "Craig &: CCG, 48, 48-50, 1988 FOG,MAP "Elston RC &: Hum Hered, 29, 284-292, 1979 FOG,MAP "Goldin LR &: AJHG, 34, 250-262, 1982 LOC,LIN "Keats &: CCG, 46, (HGM9), 637-638, 1987 CLO,SEQ "Lamouroux A &: EMBO J, 6, 3931-3937, 1987 PAT,TER "Man In'T Veld &: Lancet, 1, 183-187, 1987 EAG "O'Malley KL &: PNAS, 80, 2161-2165, 1983 PAT,TER "Robertson &: New Engl J Med, 314, 1494-1497, 1986 FOG,MAP "Wilson AF &: AJHG, 42, 160-166, 1988 |
SWI | SWISSPROT: P09172 |
KEY | neu, mtbd, card, aac |
CLA | coding, basic |
LOC | 09 q34.3 |
MIM | MIM: 223360 |
EZN | ENZYME: 1.14.17.1 |
