RECQL2 forms complexes with proteins involved both in cellular responses to DNA damage and in DNA replication.
The identification of a functional interaction between RECQL2 and the p53 tumour suppressor protein serves to emphasize the role of the RecQ family (RECQLs) in the maintenance of genomic stability.
Pathology
germline mutations of RECQL2 in Werner symdrome
Mutations in the RECQL2 gene give rise to Werner syndrome (WS), which is associated at a relatively early age with many, but not all, of the features of the normal ageing process.
WS individuals show many age-related disorders that develop from puberty, including greying and thinning of the hair, cataracts, type II diabetes mellitus, osteoporosis and atherosclerosis.
WS individuals are cancer-prone, although to a more limited extent than is seen in Blomm syndrome individuals, in particular displaying an elevated incidence of sarcomas.
See also