Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:SLC25A12
|
| gptkbp:associatedWith |
Epilepsy
global developmental delay |
| gptkbp:encodes |
mitochondrial aspartate-glutamate carrier 1
|
| gptkbp:expressedIn |
brain
|
| gptkbp:function |
transports aspartate and glutamate across mitochondrial membrane
|
| gptkbp:HGNC_ID |
gptkb:HGNC:10988
|
| https://www.w3.org/2000/01/rdf-schema#label |
AGC1
|
| gptkbp:locatedOnChromosome |
2q24.3
|
| gptkbp:mutationAssociatedWith |
developmental and epileptic encephalopathy 39
|
| gptkbp:OMIM |
603667
|
| gptkbp:orthologInMouse |
gptkb:Slc25a12
|
| gptkbp:UniProtID |
O75746
|
| gptkbp:bfsParent |
gptkb:SLC25A12
|
| gptkbp:bfsLayer |
8
|