Description: Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. RefSeq Summary (NM_000240): This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has also been associated with a variety of other psychiatric disorders, including antisocial behavior. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]. Transcript (Including UTRs) Position: hg19 chrX:43,514,155-43,606,071 Size: 91,917 Total Exon Count: 15 Strand: + Coding Region Position: hg19 chrX:43,515,590-43,603,760 Size: 88,171 Coding Exon Count: 15
ID:AOFA_HUMAN DESCRIPTION: RecName: Full=Amine oxidase [flavin-containing] A; EC=1.4.3.4; AltName: Full=Monoamine oxidase type A; Short=MAO-A; FUNCTION: Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOA preferentially oxidizes biogenic amines such as 5-hydroxytryptamine (5-HT), norepinephrine and epinephrine. CATALYTIC ACTIVITY: RCH(2)NHR' + H(2)O + O(2) = RCHO + R'NH(2) + H(2)O(2). COFACTOR: FAD. SUBUNIT: Monomer, homo- or heterodimer (containing two subunits of similar size). Each subunit contains a covalently bound flavin. Enzymatically active as monomer. SUBCELLULAR LOCATION: Mitochondrion outer membrane; Single-pass type IV membrane protein; Cytoplasmic side. TISSUE SPECIFICITY: Heart, liver, duodenum, blood vessels and kidney. MASS SPECTROMETRY: Mass=60512; Mass_error=6; Method=Electrospray; Range=1-527; Source=PubMed:11812236; DISEASE: Defects in MAOA are the cause of Brunner syndrome (BRUNS) [MIM:300615]. Brunner syndrome is a form of X-linked non- dysmorphic mild mental retardation. Male patients are affected by a syndrome of borderline mental retardation and exhibit abnormal behavior, including disturbed regulation of impulsive aggression. Obligate female carriers have normal intelligence and behavior. SIMILARITY: Belongs to the flavin monoamine oxidase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MAOA"; WEB RESOURCE: Name=Wikipedia; Note=Monoamine oxidase entry; URL="http://en.wikipedia.org/wiki/Monoamine_oxidase";
ADHD Manor I et al. 2002, Family-based and association studies of monoamine oxidase A and attention deficit hyperactivity disorder (ADHD): preferential transmission of the long promoter-region repeat and its association with impaired performance on a continuous performance test (T, Molecular psychiatry. 2002 ;7(6):626-32.
[PubMed 12140786]
All three complementary approaches employed (family-based, case-control and quantitative trait design) suggest a role for the MAO A promoter-region polymorphism in conferring risk for ADHD in our patient population.
ADHD | attention-deficit hyperactivity disorder Ana P Guimaraes , et al. The international journal of neuropsychopharmacology 2009 12(5):709-14, MAOA is associated with methylphenidate improvement of oppositional symptoms in boys with attention deficit hyperactivity disorder., The international journal of neuropsychopharmacology 2009 12(5):709-14.
[PubMed 19309535]
aggression, impulsivity, and central nervous system serotonergic responsivity Manuck SB et al. 2000, A regulatory polymorphism of the monoamine oxidase-A gene may be associated with variability in aggression impulsivity and central nervous system serotonergic responsivity., Psychiatry research. 2000 Jul;95(1):23-Sep.
[PubMed 10904119]
We conclude that the MAOA-uVNTR regulatory polymorphism may contribute, in part, to individual differences in both CNS serotonergic responsivity and personality traits germane to impulse control and antagonistic behavior.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P21397
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Protein P21397 (Reactome details) participates in the following event(s):
R-HSA-141186 MAOA:FAD oxidatively deaminates of 5HT R-HSA-374909 Metabolism of Noradrenaline R-HSA-379382 oxidation of dopamine to 3,4dihydroxyphenylacetic acid (DOPAC) R-HSA-379395 Oxidation of 3-Methoxytyramine to homovanillic acid R-HSA-6785807 Interleukin-4 and 13 signaling R-HSA-449147 Signaling by Interleukins R-HSA-141333 Biogenic amines are oxidatively deaminated to aldehydes by MAOA and MAOB R-HSA-380612 Metabolism of serotonin R-HSA-181430 Norepinephrine Neurotransmitter Release Cycle R-HSA-379398 Enzymatic degradation of Dopamine by monoamine oxidase R-HSA-379397 Enzymatic degradation of dopamine by COMT R-HSA-1280215 Cytokine Signaling in Immune system R-HSA-140179 Amine Oxidase reactions R-HSA-380615 Serotonin clearance from the synaptic cleft R-HSA-112310 Neurotransmitter release cycle R-HSA-379401 Dopamine clearance from the synaptic cleft R-HSA-168256 Immune System R-HSA-211945 Phase I - Functionalization of compounds R-HSA-112311 Neurotransmitter clearance R-HSA-112315 Transmission across Chemical Synapses R-HSA-211859 Biological oxidations R-HSA-112316 Neuronal System R-HSA-1430728 Metabolism