The versatile RECQL4.
The human DNA helicase RECQL4 interacts in an array of intracellular regulatory pathways from the initiation of DNA replication, through maintaining genomic stability, to the N-end rule pathway. Interestingly, mutations in RECQL4 have recently been revealed not only in Rothmund-Thomson-, but RAPADILINO-, and cases of Baller-Gerold syndrome also. Although these disorders represent distinct genetic entities, clinical observations have delineated highly variable expressivity and significant overlaps in the associated phenotypic manifestations. Consequently, it is especially difficult to draw precise genotype-phenotype correlations in RECQL4 related syndromes. This is likely due to the complex and multiple cellular networks RECQL4 is associated with.
Kellermayer
Richard
R
Department of Medical Genetics and Child Development, University of Pécs, Hungary.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000251:Adenosine Triphosphatases / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D053484:RecQ Helicases; D011038:Rothmund-Thomson Syndrome / Q000235:genetics*; D013577:Syndrome
D000251:Adenosine Triphosphatases; C506731:RECQL4 protein, human; D004265:DNA Helicases; D053484:RecQ Helicases