Summary of ABAT
The ABAT gene codes for the GABA-transaminase enzyme. This enzyme helps break down GABA, a chemical that relaxes the nervous system [R].
ABAT mutations may lead to a deficiency of GABA-transaminase. This can drastically elevate levels of GABA . GABA-transaminase deficiency causes [R, R]:
- Recurrent seizures
- Movement problems
- Excessive sleepiness
It's better to have this gene decreased
most of the time.
0 users want this gene increased,
0 users want it decreased
Protein names
Recommended name:
4-aminobutyrate aminotransferase, mitochondrialShort name:
(SAlternative name(s):
GABA aminotransferaseGABA-AT
Gamma-amino-N-butyrate transaminase
GABA transaminase
GABA-T
L-AIBAT
- RS1299926 (ABAT) ??
- RS1641025 (ABAT) ??
- RS1731017 (ABAT) ??
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Top Gene-Substance Interactions
ABAT Interacts with These Diseases
| Disease | Score |
Substances That Increase ABAT
| Substances | Interaction | Organism | Category |
Substances That Decrease ABAT
| Substances | Interaction | Organism | Category |
Advanced Summary
Conditions with Increased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
|---|
Conditions with Decreased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
|---|
Technical
The following transcription factors affect gene expression:
Tissue specificity:
Liver > pancreas > brain > kidney > heart > placenta.
Gene Pathways:
Cofactor:
Binds 1 [2Fe-2S] cluster per homodimer.
Molecular Function:
- (S)-3-Amino-2-Methylpropionate Transaminase Activity
- 4-Aminobutyrate Transaminase Activity
- Iron-Sulfur Cluster Binding
- Metal Ion Binding
- Protein Homodimerization Activity
- Pyridoxal Phosphate Binding
- Succinate-Semialdehyde Dehydrogenase Binding
Biological Processes:
- Aging
- Behavioral Response To Cocaine
- Cerebellum Development
- Copulation
- Exploration Behavior
- Gamma-Aminobutyric Acid Biosynthetic Process
- Gamma-Aminobutyric Acid Catabolic Process
- Locomotory Behavior
- Negative Regulation Of Blood Pressure
- Negative Regulation Of Dopamine Secretion
- Negative Regulation Of Gamma-Aminobutyric Acid Secretion
- Negative Regulation Of Platelet Aggregation
- Neurotransmitter Catabolic Process
- Positive Regulation Of Aspartate Secretion
- Positive Regulation Of Dopamine Metabolic Process
- Positive Regulation Of Heat Generation
- Positive Regulation Of Inhibitory Postsynaptic Potential
- Positive Regulation Of Insulin Secretion
- Positive Regulation Of Prolactin Secretion
- Positive Regulation Of Uterine Smooth Muscle Contraction
- Response To Ethanol
- Response To Hypoxia
- Response To Iron Ion
- Response To Nicotine
Drug Bank:
- L-Alanine
- Pyruvic Acid
- Valproic Acid
- Vigabatrin
- Phenelzine