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Details of ABAT gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| ABAT | GABAT | P80404 | GABT_HUMAN | 18 | ENSG00000183044 | 4-aminobutyrate aminotransferase, mitochondrial | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| GABA transaminase deficiency (GABATD) [MIM:613163]: An enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Note=The disease is caused by mutations affecting the gene represented in this entry. | 613163 | ||||||||
Phenotypes
Abnormal axial skeleton morphology, Abnormal CNS myelination, Abnormality of central motor function, Abnormality of facial skeleton, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebral subcortex, Abnormality of the cerebral white matter, Abnormality of the cerebrum, Abnormality of the corpus callosum, Abnormality of the eyelid, Abnormality of the face, Abnormality of the forebrain, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the mandible, Abnormality of the metencephalon, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the ocular region, Abnormality of the palpebral fissures, Abnormality of the periorbital region, Abnormality of the posterior cranial fossa, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the skull base, Abnormal muscle tone, Agenesis of corpus callosum, All, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Cerebellar hypoplasia, Cognitive impairment, Downslanted palpebral fissures, Dysplastic corpus callosum, Global developmental delay, Hyperreflexia, Intracranial cystic lesion, Lethargy, Leukodystrophy, Mode of inheritance, Morphological abnormality of the central nervous system, Muscular hypotonia, Phenotypic abnormality, Posterior fossa cyst, Reduced consciousness/confusion, Retrognathia, Seizures, Severe muscular hypotonia, Slanting of the palpebral fissure.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Abat | CG7433 | gta-1 | Sp-Abat | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| ABAT | CAT | 0.032502735 | ABAT | CAT | cpx60 | no | no | no | Novel |
| ABAT | HSPE1 | 0.5 | ABAT | HSPE1 | cpx230 | no | no | no | Novel |
| ABAT | ESD | 0.46220142 | ABAT | ESD | cpx230 | no | no | no | Novel |
| SOD2 | ABAT | 0.116572955 | SOD2 | ABAT | cpx60 | no | no | no | Novel |
| LDHA | ABAT | 0.134262878 | LDHA | ABAT | cpx60 | no | no | no | Novel |
| ABAT | PDCD6IP | 0.102188098 | ABAT | PDCD6IP | cpx60 | no | no | no | Novel |
| ABAT | PGM1 | 0.382634658 | ABAT | PGM1 | cpx60 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| ABAT | RAD23B | 0.073089677 | ABAT | RAD23B |
| PRPF8 | ABAT | 0.077729298 | PRPF8 | ABAT |
| ABAT | QDPR | 0.255142629 | ABAT | QDPR |
| LDHAL6B | ABAT | 0.140632647 | LDHAL6B | ABAT |
| PDXK | ABAT | 0.086686371 | PDXK | ABAT |
| CFL1 | ABAT | 0.152961484 | CFL1 | ABAT |
| GDA | ABAT | 0.103378693 | GDA | ABAT |
| DSTN | ABAT | 0.161473394 | DSTN | ABAT |
| CFL2 | ABAT | 0.151344331 | CFL2 | ABAT |
| ABAT | FAHD1 | 0.093636168 | ABAT | FAHD1 |
| ABAT | CBS | 0.087219874 | ABAT | CBS |
| ALDH7A1 | ABAT | 0.176495379 | ALDH7A1 | ABAT |
| ABAT | ADSL | 0.19526532 | ABAT | ADSL |
| ABAT | PGM2 | 0.077263686 | ABAT | PGM2 |
| ABAT | HSD17B14 | 0.071323665 | ABAT | HSD17B14 |
| ABAT | FAH | 0.080184501 | ABAT | FAH |
| ABAT | SORD | 0.086190032 | ABAT | SORD |
| ABAT | AKR1B1 | 0.116956643 | ABAT | AKR1B1 |
| ABAT | GPI | 0.073551912 | ABAT | GPI |
| ABAT | ENO1 | 0.086433441 | ABAT | ENO1 |