Details for Gene RECQL4

GENE NAME RECQL4
CHROMOSOME 8
ENSEMBL ID ENSG00000160957
ENTREZ ID 9401
UNIPROT ACCESSION NUMBER O94761
GO MOLECULAR FUNCTION four-way junction helicase activity; ATP binding; 3'-5' DNA helicase activity; nucleotide binding; hydrolase activity; bubble DNA binding; nucleic acid binding; helicase activity
ESSENTIAL IN MOUSE None
PATHWAYS
2 combinations linked to RECQL4 OLI599; OLI598
2 variants linked to RECQL4 RECQL4:c.2237C>T, p.Ala746Val; RECQL4:c.3062G>A, p.Arg1021Gln
1 disease linked to RECQL4 Disorder of sex development

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