| Primary Identifier | MGI:1913266 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 57813 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables deoxycytidine kinase activity and thymidine kinase activity. Acts upstream of or within deoxyribonucleotide metabolic process and mitochondrial DNA replication. Located in mitochondrial inner membrane. Is active in mitochondrion. Used to study mitochondrial DNA depletion syndrome 2. Human ortholog(s) of this gene implicated in autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 and mitochondrial DNA depletion syndrome 2. Orthologous to human TK2 (thymidine kinase 2). PHENOTYPE: Knock-out mice die at 2-4 wks of age showing stunted growth, hypothermia, progressive mtDNA loss, aberrant myocardial fibers and altered adipose tissue structure. Knock-in mutant mice show encephalomyelopathy, impaired gait, mtDNA loss, altered mt dNTP pools and respiratory chain enzyme activities. [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
