AlphaFold predicted structure
MAOA · P21397
Mean pLDDT
97.0/ 100
Very high
527 residues
Confidence breakdown
- Very high(≥ 90)97%
- Confident(70–90)1%
- Low(50–70)0%
- Very low(< 50)2%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
MAOA
Chr Xp11.3monoamine oxidase A
- MANE:
- ENST00000338702.4
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesIntellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesLikely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesNeurotransmitter disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Undiagnosed metabolic disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesChildhood onset dystonia, chorea or related movement disorder
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesSudden death in young people
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Disease associations (Open Targets)
Brunner syndrome
0.77Monoamine oxidase A deficiency
0.72major depressive disorder
0.61depressive disorder
0.54hereditary disease
0.45mental disorder
0.38Hypertension
0.37hypertensive disorder
0.37melancholia
0.37autism
0.34
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Amine oxidase [flavin-containing] A
Catalyzes the oxidative deamination of primary and some secondary amine such as neurotransmitters, with concomitant reduction of oxygen to hydrogen peroxide and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues (PubMed:18391214, PubMed:20493079, PubMed:24169519, PubMed:8316221). Preferentially oxidizes serotonin (PubMed:20493079, PubMed:24169519). Also catalyzes the oxidative deamination of kynuramine to 3-(2-aminophenyl)-3-oxopropanal that can spontaneously condense to 4-hydroxyquinoline (By similarity)
Diseases associated with MAOA
Curated MONDO disease pages that list MAOA among their top associated genes.