Primary Identifier | MGI:1919666 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 72416 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables RNA binding activity and single-stranded DNA binding activity. Acts upstream of or within negative regulation of mitochondrial RNA catabolic process and regulation of mitochondrial translation. Located in mitochondrion and nucleus. Part of ribonucleoprotein complex. Is expressed in several structures, including brain; genitourinary system; heart; liver; and skeletal muscle. Human ortholog(s) of this gene implicated in French Canadian Leigh disease and Leigh disease. Orthologous to human LRPPRC (leucine rich pentatricopeptide repeat containing). PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality during organogenesis associated with growth retardation. Mice homozygous for a knock-out allele exhibit embryonic lethality between somite formation and embryo turning. [provided by MGI curators] |