Details for Gene TWNK

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

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