| Primary Identifier | MGI:2442111 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 243382 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable manganese ion binding activity and protein serine/threonine phosphatase activity. Involved in regulation of mitochondrial membrane permeability involved in apoptotic process. Located in mitochondrial matrix. Is expressed in several structures, including diaphragm; gut; liver; lung; and spleen. Used to study maple syrup urine disease. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human PPM1K (protein phosphatase, Mg2+/Mn2+ dependent 1K). PHENOTYPE: Mice homozygous for a null allele exhibit defective amino acid metabolism, increased oxidative stress, and increased mortality when subjected to a high-protein diet while in utero and during postnatal development. [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
