| Primary Identifier | MGI:1915391 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 108682 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable L-alanine:2-oxoglutarate aminotransferase activity. Predicted to be involved in 2-oxoglutarate metabolic process; L-alanine metabolic process; and gluconeogenesis. Located in mitochondrion. Is expressed in several structures, including alimentary system; musculature; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with spastic paraplegia and microcephaly. Orthologous to human GPT2 (glutamic--pyruvic transaminase 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypoactivity, reduced postnatal brain growth, various metabolic defects in pathways involving amino acid metabolism, the TCA cycle and neuroprotective mechanisms, and premature death. [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
