MAOA Gene: Monoamine Oxidase A
Genetic and Functional Insights into MAOA
Gene Information Card
| Symbol | MAOA |
|---|---|
| Full Name | Monoamine Oxidase A |
| Gene Type | protein-coding |
| Chromosomal Location | Xp11.3 |
| NCBI Gene ID | 4128 ncbi.nlm.nih.gov/gene/4128 |
| Ensembl ID | ENSG00000189221 |
| UniProt ID | P21397 |
| OMIM ID | 309850 |
| HGNC ID | 6833 |
| Aliases | MAO-A, MGC26582 |
Description
The MAOA gene encodes monoamine oxidase A, a mitochondrial enzyme that catalyzes the oxidative deamination of neurotransmitters such as serotonin, norepinephrine, and dopamine. It plays a critical role in the regulation of neurotransmitter levels and is implicated in neuropsychiatric disorders and behavioral traits.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Brunner syndrome | Loss-of-function mutations in MAOA lead to impaired degradation of monoamines, resulting in elevated serotonin and norepinephrine levels, associated with impulsive aggression and intellectual disability. | OMIM #300615; ClinVar |
| Major depressive disorder | Altered MAOA activity influences monoamine neurotransmitter availability; elevated MAOA expression is linked to depressive symptoms. | NCBI Gene; PubMed |
| Parkinson's disease | MAOA contributes to oxidative stress via dopamine metabolism; genetic variants may modulate risk. | OMIM; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Brain (cortex) | 8.3 | Medium |
| Heart | 4.1 | Low |
| Kidney | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 9.2 | Neuronal model |
| HepG2 (hepatocellular carcinoma) | 11.8 | High expression |
| HEK293 (embryonic kidney) | 2.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.878C>T (p.Pro293Leu) | Missense | Rare | Loss of function; associated with Brunner syndrome |
| c.892G>A (p.Gly298Arg) | Missense | <0.01% | Reduced enzyme activity |
| c.1460C>T (p.Thr487Ile) | Missense | 0.02% | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Pro293Leu) reduce or abolish catalytic activity, leading to monoamine accumulation and Brunner syndrome.
Gain of Function (GOF)
Not well documented; some variants may increase activity but are not clinically established.
Dominant Negative (DN)
Not reported for MAOA; the gene is X-linked, and hemizygous males are primarily affected.
View complete mutation data：
Gene Ontology (GO)
| • GO:0008131 – primary amine oxidase activity | • GO:0005739 – mitochondrion |
| • GO:0006584 – catecholamine metabolic process | • GO:0042420 – dopamine catabolic process |
| • GO:0055114 – oxidation-reduction process |
Pathways
• REACT:111217 – Metabolism of serotonin
• REACT:111219 – Dopamine degradation
• REACT:111221 – Norepinephrine degradation
Protein Summary
Monoamine oxidase A (MAOA) is a 527-amino acid mitochondrial outer membrane flavoenzyme. It exists as a homodimer and uses FAD as a cofactor to deaminate biogenic amines. The protein is highly expressed in the liver and brain, where it regulates neurotransmitter turnover. Structural studies reveal a hydrophobic substrate-binding cavity that determines specificity for serotonin and norepinephrine.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAOA Knockout HEK293T Cell Line | EDJ-KQ219 | Human | 4128 | Details Get a Quote |
| MAOA Knockout HEK293 Cell Line | EDJ-KQ2873 | Human | 4128 | Details Get a Quote |
| MAOA Knockout A-549 Cell Line | EDJ-KQ25292 | Human | 4128 | Details Get a Quote |
| MAOA Knockout HCT 116 Cell Line | EDJ-KQ25294 | Human | 4128 | Details Get a Quote |
| MAOA Knockout HeLa Cell Line | EDJ-KQ25295 | Human | 4128 | Details Get a Quote |
| MAOA Knockout HAP1 Cell Line | EDC08260 | Human | 4128 | Details Get a Quote |
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