Primary Identifier | MGI:1917457 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 70207 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables mRNA binding activity; mitochondrial ribosome binding activity; and rRNA binding activity. Acts upstream of or within several processes, including mitochondrial cytochrome c oxidase assembly; motor learning; and regulation of cytochrome-c oxidase activity. Located in mitochondrion. Is expressed in several structures, including alimentary system; nervous system; nose; orbito-sphenoid; and pharyngo-tympanic tube. Human ortholog(s) of this gene implicated in mitochondrial complex IV deficiency nuclear type 8. Orthologous to human TACO1 (translational activator of cytochrome c oxidase I). PHENOTYPE: Homozygous null mice exhibit retinal neuron degeneration, cardiohypertrophy and motor dysfunction as a result of isolated complex IV deficiency. [provided by MGI curators] |