ABAT
Summary: 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:137150 Ensembl IDEnsembl:ENSG00000183044 HGNC IDHGNC:HGNC:23 PHARMGKB IDPA24372 Map Location16p13.2 | |||||
GO terms in ABAT
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0001666 | response to hypoxia |
| BP | IEA | GO:0007568 | aging |
| BP | IEA | GO:0007620 | copulation |
| BP | IEA | GO:0007626 | locomotory behavior |
| BP | IEA | GO:0009449 | gamma-aminobutyric acid biosynthetic process |
| BP | IBA | GO:0009450 | gamma-aminobutyric acid catabolic process |
Gene expression in normal tissue: ABAT
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ABAT
Database | Pathway ID | Pathway Des. |
|---|---|---|
| smpdb | SMP00007 | Beta-Alanine Metabolism |
| smpdb | SMP00016 | Propanoate Metabolism |
| smpdb | SMP00032 | Valine, Leucine and Isoleucine Degradation |
| smpdb | SMP00067 | Aspartate Metabolism |
| smpdb | SMP00072 | Glutamate Metabolism |
| smpdb | SMP00136 | 2-Hydroxyglutric Aciduria (D And L Form) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ABAT
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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