Primary Identifier | MGI:1913382 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 66132 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ribonuclease P activity. Predicted to be involved in mitochondrial tRNA 5'-end processing and tRNA 5'-leader removal. Located in mitochondrial nucleoid. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 54. Orthologous to human PRORP (protein only RNase P catalytic subunit). PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice homozygous for a conditional allele activated in skeletal and cardiac muscle exhibit premature death associated with cardiac myopathy and impaired mitochondrial function due to decreased tRNA 5' end processing. [provided by MGI curators] |