| Primary Identifier | MGI:1919049 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 71799 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables rRNA binding activity. Involved in mitochondrial RNA modification. Is active in mitochondrial matrix. Is expressed in central nervous system and sensory organ. Orthologous to human PTCD1 (pentatricopeptide repeat domain 1). PHENOTYPE: Knockout affects mitochondrial protein synthesis and RNA metabolism. Homozygous KO is embryonic lethal. Heterozygous KO causes adult onset obesity, liver fibrosis and cardiac hypertrophy. [provided by MGI curators] |