Aliases for RECQL4 Gene
External Ids for RECQL4 Gene
The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
GeneCards Summary for RECQL4 Gene
RECQL4 (RecQ Protein-Like 4) is a Protein Coding gene. Diseases associated with RECQL4 include rapadilino syndrome and baller-gerold syndrome. Among its related pathways are Cell Cycle / Checkpoint Control and Cell Cycle / Checkpoint Control. GO annotations related to this gene include bubble DNA binding and ATP-dependent 3-5 DNA helicase activity. An important paralog of this gene is BLM.
UniProtKB/Swiss-Prot for RECQL4 Gene
DNA-dependent ATPase. May modulate chromosome segregation.