| Primary Identifier | MGI:2137410 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 226153 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables DNA helicase activity. Involved in mitochondrial DNA replication. Acts upstream of or within DNA unwinding involved in DNA replication. Located in mitochondrion. Human ortholog(s) of this gene implicated in Perrault syndrome; autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3; chronic progressive external ophthalmoplegia; and mitochondrial DNA depletion syndrome 7. Orthologous to human TWNK (twinkle mtDNA helicase). PHENOTYPE: Homozygous embryos display abnormal development. Embryos die around E8.5. [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
