Primary Identifier | MGI:1914676 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 67426 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ADP binding activity and kinase activity. Predicted to be involved in phosphorylation and ubiquinone biosynthetic process. Located in mitochondrion. Is expressed in heart and heart right ventricle. Used to study primary coenzyme Q10 deficiency 4. Human ortholog(s) of this gene implicated in primary coenzyme Q10 deficiency 4. Orthologous to human COQ8A (coenzyme Q8A). PHENOTYPE: Homozygous null mice develop slowly progressing cerebellar ataxia, Purkinje cell degeneration and dysfunction, mild exercise intolerance, and increased susceptibility to induced seizures. [provided by MGI curators] |