Primary Identifier | MGI:1918951 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 71701 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including RNA binding activity; identical protein binding activity; and polyribonucleotide nucleotidyltransferase activity. Involved in mitochondrial mRNA catabolic process; mitochondrion organization; and regulation of cellular respiration. Located in mitochondrial intermembrane space. Is expressed in central nervous system and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 70; combined oxidative phosphorylation deficiency 13; and spinocerebellar ataxia type 25. Orthologous to human PNPT1 (polyribonucleotide nucleotidyltransferase 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality and impaired mitochondrial RNA import. [provided by MGI curators] |