| Primary Identifier | MGI:88137 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 12040 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity. Predicted to be involved in branched-chain amino acid catabolic process and response to nutrient. Predicted to act upstream of or within amino acid catabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Used to study maple syrup urine disease. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta). PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal growth retardation and complete postnatal lethality with increased plasma levels of branched-chain amino acids and alloisoleucine, mimicking features of severe neonatal maple syrup urine disease. [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
