calcium-binding mitochondrial carrier protein Aralar1
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeName |
gptkb:Aralar1
gptkb:solute_carrier_family_25_member_12 |
| gptkbp:associatedWith |
Epilepsy
|
| gptkbp:encodedBy |
SLC25A12 gene
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
brain |
| gptkbp:function |
calcium-dependent aspartate-glutamate transporter
|
| gptkbp:gene |
gptkb:SLC25A12
|
| https://www.w3.org/2000/01/rdf-schema#label |
calcium-binding mitochondrial carrier protein Aralar1
|
| gptkbp:locatedIn |
mitochondrial inner membrane
|
| gptkbp:locatedOnChromosome |
2q24.3
|
| gptkbp:molecularWeight |
~74 kDa
|
| gptkbp:mutationAssociatedWith |
gptkb:autism_spectrum_disorder
developmental delay |
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
O75746
|
| gptkbp:bfsParent |
gptkb:SLC25A12
|
| gptkbp:bfsLayer |
8
|