Primary Identifier | MGI:1915164 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 67914 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable lipid binding activity and protein homodimerization activity. Involved in ubiquinone biosynthetic process. Acts upstream of or within mitochondrial electron transport, NADH to ubiquinone. Located in mitochondrion. Is expressed in heart and heart right ventricle. Used to study coenzyme Q10 deficiency disease. Human ortholog(s) of this gene implicated in primary coenzyme Q10 deficiency 5. Orthologous to human COQ9 (coenzyme Q9). PHENOTYPE: Mice homozygous for a knock-in allele exhibit premature death, encephalomyopathy, hair loss, weight loss, demyelination, cardiac fibrosis and abnromal mitochondrial function. [provided by MGI curators] |