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RECQL2

MIM.604611 8p12-p11.2

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

- RECQLs