| Primary Identifier | MGI:107701 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 12039 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable metal ion binding activity. Predicted to contribute to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity and branched-chain alpha-keto acid dehydrogenase activity. Predicted to be involved in branched-chain amino acid catabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha). PHENOTYPE: Mice homozygous for a conditional allele activated in BAT exhibit impaired adaptive thermogenesis, lack a decrease in branched-chains amino acid plasma concentration in response to cold exposure and induced increased body weight, body fat, and liver weight, impaired glucose tolerance and insulin resistance in response to a high-fat 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
