Twnk - twinkle mtDNA helicase Gene
Also Known as PEO; Peo1; Twinl; D19Ertd626e
Species: Mus musculus
Summary
Enables DNA helicase activity. Involved in mitochondrial DNA replication. Acts upstream of or within DNA unwinding involved in DNA replication. Located in mitochondrion. Used to study Parkinson's disease. 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). [provided by Alliance of Genome Resources, Apr 2022]
Twnk Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001348254.1 | NP_001335183.1 | twinkle mtDNA helicase isoform 3 |
| NM_001348259.1 | NP_001335188.1 | twinkle mtDNA helicase isoform 2 |
| NM_153796.4 | NP_722491.2 | twinkle mtDNA helicase isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA helicase activity |
IDA
IDA: Inferred from direct assay
|
11431692 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within DNA unwinding involved in DNA replication |
IDA
IDA: Inferred from direct assay
|
11431692 | MGI |
| involved in mitochondrial DNA replication |
IMP
IMP: Inferred from mutant phenotype
|
18971204 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
11431692 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
twinkle mtDNA helicase |
|
|