| Primary Identifier | MGI:1351602 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 27369 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables deoxyguanosine kinase activity. Acts upstream of or within dGTP metabolic process and protein phosphorylation. Located in cytosol and mitochondrion. Is expressed in central nervous system and retina. Human ortholog(s) of this gene implicated in autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4; mitochondrial DNA depletion syndrome 3; and mitochondrial metabolism disease. Orthologous to human DGUOK (deoxyguanosine kinase). PHENOTYPE: Mice homozygous for a knock-out allele exhibit weight loss, absent subcutaneous fat tissue, severe mtDNA depletion and mitochondrial dysfunction in the liver with signs of oxidative stress, liver damage and regeneration, increased catabolic lipid metabolism, and a progressive change in fur color. [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
