| Primary Identifier | MGI:1926080 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 78830 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables acidic amino acid transmembrane transporter activity and aspartate:glutamate, proton antiporter activity. Involved in malate-aspartate shuttle. Located in mitochondrion. Is active in mitochondrial inner membrane. Is expressed in central nervous system; embryo; and retina. Used to study developmental and epileptic encephalopathy 39. Human ortholog(s) of this gene implicated in Asperger syndrome; autistic disorder; and developmental and epileptic encephalopathy 39. Orthologous to human SLC25A12 (solute carrier family 25 member 12). PHENOTYPE: Mice homozygous for a null allele show severe growth defects, generalized tremors, postnatal lethality, impaired motor coordination, and CNS dysmyelination associated with decreased synthesis of myelin lipids and a striking reduction in brain aspartate and N-acetylaspartate levels. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
