Aliases for RECQL Gene
External Ids for RECQL Gene
Previous GeneCards Identifiers for RECQL Gene
The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. Some members of this family are associated with genetic disorders with predisposition to malignancy and chromosomal instability. The biological function of this helicase has not yet been determined. Two alternatively spliced transcripts, which encode the same isoform but differ in their 5' and 3' UTRs, have been described. [provided by RefSeq, Jul 2008]
GeneCards Summary for RECQL Gene
RECQL (RecQ Helicase-Like) is a Protein Coding gene. Diseases associated with RECQL include rapadilino syndrome and rothmund-thomson syndrome. Among its related pathways are Cell Cycle / Checkpoint Control. GO annotations related to this gene include ATP-dependent DNA helicase activity and ATP-dependent 3-5 DNA helicase activity. An important paralog of this gene is BLM.
UniProtKB/Swiss-Prot for RECQL Gene
DNA helicase that may play a role in the repair of DNA that is damaged by ultraviolet light or other mutagens. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3-5 direction.