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 8.0.0) Predicted to enable tRNA binding activity. Involved in mitochondrial translation. Predicted to be located in mitochondrion. Predicted to be active in mitochondrial matrix. Is expressed in central nervous system and sensory organ. Orthologous to several human genes including 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] |