Primary Identifier | MGI:1915541 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 68291 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable flavin adenine dinucleotide binding activity. Acts upstream of or within mitochondrial tRNA wobble uridine modification. Located in mitochondrion. Used to study combined oxidative phosphorylation deficiency. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 10. Orthologous to human MTO1 (mitochondrial tRNA translation optimization 1). PHENOTYPE: Homozygotes for a hypomorphic allele show bradycardia, cardiomyopathy, worsening of arrhythmias during induction and reversal of anesthesia, and mitochondrial abnormalities. [provided by MGI curators] |