| Primary Identifier | MGI:1354721 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 50799 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables L-glutamate transmembrane transporter activity. Involved in gluconeogenesis. Acts upstream of or within aspartate transmembrane transport and malate-aspartate shuttle. Located in mitochondrion. Is active in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; lung; and nose. Used to study citrullinemia. Human ortholog(s) of this gene implicated in adult-onset type II citrullinemia and neonatal-onset type II citrullinemia. Orthologous to human SLC25A13 (solute carrier family 25 member 13). PHENOTYPE: Mice homozygous for disruptions in this gene appear normal, healthy and fertile, although they have a number of metabolic defects, but the spontaneous hyperspin deletion spanning from intron 3 to exon 17 also eliminates a modifier of Dlx5 causing a recessive vestibular and mortality phenotype [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
