| Gene Information | |
|---|---|
| Gene Name | KBL |
| Organism | Homo sapiens (Human) |
| Gene Length | 419 |
| Protein Names | 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial (AKB ligase) (EC 2.3.1.29) (Aminoacetone synthase) (Glycine acetyltransferase) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | O75600 |
| Gene Card | GCAT |
| Uniprot ID | O75600 |
| Pfam | PF00155 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Strongly expressed in heart, brain, liver and pancreas. Also found in lung. {ECO:0000269|PubMed:10712613}. |
| Pharmacological Animal Models | 0.000730(Chimpanzee);NULL(Mouse);NULL(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs710187 rs34468367 |
| Subcellular location [CC] | Mitochondrion {ECO:0000250|UniProtKB:Q0P5L8}. Nucleus {ECO:0000269|PubMed:17688197}. Note=Translocates to the nucleus upon cold and osmotic stress. {ECO:0000269|PubMed:17688197}. |
| Mouse PG classification | NA |
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