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 | OLI598; OLI599 |
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 |