RECQ4, active

Background Information:

RECQ4 is a member of the RecQ helicase family and is required for the maintenance of genome integrity. It has been shown to promote non-homologous end joining (NHEJ) and homologous recombination (HR) DNA double-strand break (DSB) repair pathways. RECQ4 mutations have been linked to the pathogenesis of Rothmund-Thomson syndrome, Baller-Gerold syndrome, and RAPADILINO, which show various developmental abnormalities. Other RECQ4 mutations are associated with high cancer risks, especially for osteosarcoma and/or lymphoma at early ages, suggesting a tumour suppressor role. RECQ4 is also overexpressed in a number of cancers, including pancreatic cancer, melanoma, prostate and ovarian cancers. The high levels of expression are required to support rapid cancer cell growth, suggesting a potential oncogenic role for RECQ4 in these clinical conditions.

Target Class:

Helicase

Family:

RecQ

Sub Family:

DNA helicase

Protein Aliases:

RECQL4, RTS

Accession Number:

NM_004260.4

UniProt Number:

O94761

Target Species:

Human