GENE NAME | TWNK |
CHROMOSOME | 10 |
ENSEMBL ID | ENSG00000107815 |
ENTREZ ID | 56652 |
UNIPROT ACCESSION NUMBER | Q96RR1 |
GO MOLECULAR FUNCTION | DNA helicase activity; ATP hydrolysis activity; ATP binding; nucleotide binding; protease binding; hydrolase activity; 5'-3' DNA helicase activity; helicase activity; identical protein binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-1592230; hsa05017; R-HSA-1852241; R-HSA-2151201 |
2 combinations linked to TWNK | OLI114; OLI131 |
2 variants linked to TWNK | TWNK:c.1142T>C, p.Leu381Pro; TWNK:c.1031G>A, p.Arg334Gln |
1 disease linked to TWNK | Progressive external ophthalmoplegia |