| Primary Identifier | MGI:107207 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 12850 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable 3-demethoxyubiquinol 3-hydroxylase activity and chromatin binding activity. Acts upstream of or within several processes, including chordate embryonic development; determination of adult lifespan; and mitochondrial ATP synthesis coupled electron transport. Located in mitochondrion. Is expressed in several structures, including alimentary system; ear; heart; respiratory system; and skeleton. Human ortholog(s) of this gene implicated in autosomal recessive distal hereditary motor neuronopathy 9 and primary coenzyme Q10 deficiency 8. Orthologous to human COQ7 (coenzyme Q7, hydroxylase). PHENOTYPE: Mice homozygous for null mutations in this gene are embryonic lethal during mid-gestation with aborted neurogenesis and abnormal mitochondria. Mice heterozygous for a null allele exhibit extended lifespan with mitochondrial dysfunction and altered inner and outer membrane ubiquinone levels. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
