Entity Details
| Primary name |
GABT_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | P80404 |
| EntryName | GABT_HUMAN |
| FullName | 4-aminobutyrate aminotransferase, mitochondrial |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 500 |
| SequenceStatus | complete |
| DateCreated | 1995-11-01 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Mitochondrion matrix |
Domains
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| Domain | Name | Category | Type |
| IPR004631 | 4-aminobutyrate aminotransferase, eukaryotic | Family | Family |
| IPR005814 | Aminotransferase class-III | Family | Family |
| IPR015421 | Pyridoxal phosphate-dependent transferase, major domain | Family | Homologous superfamily |
| IPR015422 | Pyridoxal phosphate-dependent transferase, small domain | Family | Homologous superfamily |
| IPR015424 | Pyridoxal phosphate-dependent transferase | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 613163 | OMIM | GABA transaminase deficiency (GABATD) | An enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. The disease is caused by variants affecting the gene represented in this entry. |
Drugs
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| Drug | Name | Source | Type |
| DB00114 | Pyridoxal phosphate | Drugbank | small molecule |
| DB00119 | Pyruvic acid | Drugbank | small molecule |
| DB00142 | Glutamic acid | Drugbank | small molecule |
| DB00160 | Alanine | Drugbank | small molecule |
| DB00780 | Phenelzine | Drugbank | small molecule |
| DB01080 | Vigabatrin | Drugbank | small molecule |
| DB01699 | (4e)-4-Aminohex-4-Enoic Acid | Drugbank | small molecule |
| DB04235 | 4-Amino Hexanoic Acid | Drugbank | small molecule |
Interactions
3 interactions