| Primary Identifier | MGI:1276534 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 12036 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables branched-chain-amino-acid transaminase activity. Acts upstream of or within branched-chain amino acid metabolic process; cellular response to leukemia inhibitory factor; and regulation of hormone levels. Located in mitochondrion. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study maple syrup urine disease. Human ortholog(s) of this gene implicated in hypervalinemia and hyperleucine-isoleucinemia. Orthologous to human BCAT2 (branched chain amino acid transaminase 2). PHENOTYPE: The metabolism of branched chain amino acid is impaired in homozygous null mice, resulting in a phenotype similar to human maple syrup urine disease. Mutants exhibit a failure to thrive and die prematurely, though the severity of the symptoms can be ameliorated with a restricted diet. [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
