VARIANT: 4128v1
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Entry
4128v1 Variant
Name
MAOA deficiency
Type
Loss of function
Gene
MAOA
amine oxidase [flavin-containing] A isoform 1 [KO:
K00274
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
309850
Network
nt06028
Dopamine and serotonin metabolism
nt06544
Neuroactive ligand signaling
Disease
H00548
Brunner syndrome
Reference
PMID:
8211186
Authors
Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA
Title
Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A.
Journal
Science 262:578-80 (1993)
DOI:
10.1126/science.8211186
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