Primary Identifier | IPR028331 | Type | Family |
Short Name | CHL1/DDX11 |
description | CHL1 DNA helicase plays a critical role in sister chromatid cohesion []. DDX11 is the mammalian homologue of the yeast CHL1. DDX11 is a DNA helicase involved in cellular proliferation []. In humans a second homologue has been identified, DDX12 []. DDX11 translocates on single-stranded DNA in the 5' to 3' direction in the presence of ATP and, to a lesser extent, dATP. Its unwinding activity requires a 5'-single-stranded region for helicase loading, since flush-ended duplex structures do not support unwinding []. Defects in DDX11 are the cause of Warsaw breakage syndrome (WBRS), a syndrome characterised by severe microcephaly, growth retardation, facial dysmorphism and abnormal skin pigmentation []. |