| Primary Identifier | MGI:1276121 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 12041 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables protein kinase activity. Predicted to be involved in several processes, including branched-chain amino acid catabolic process; regulation of glucose metabolic process; and spermatogenesis. Located in mitochondrion. Is expressed in several structures, including genitourinary system; heart; liver; lung; and skeletal muscle. Used to study autism spectrum disorder and branched-chain keto acid dehydrogenase kinase deficiency. Human ortholog(s) of this gene implicated in branched-chain keto acid dehydrogenase kinase deficiency. Orthologous to human BCKDK (branched chain keto acid dehydrogenase kinase). PHENOTYPE: Nullizygous mutations lead to altered amino acid metabolism, gait anomalies and neurobehavioral phenotypes. Homozygotes for a gene trapped allele show impaired growth, reduced fertility and epileptic seizures. Homozygotes for another gene trapped allele show motor delay and autism-like behaviors. [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
